American Journal of Medical Genetics Part A最新文献

{"title":"Expansion of the Clinical and Molecular Spectrum of LINS1-Associated Disease.","authors":"Ayman Y Ibrahim, Erika Levine, Ayuko Iverson, Sangeeta Sharma, Lisa Forman, Christina Cuccia, Mafalda Barbosa","doi":"10.1002/ajmg.a.70304","DOIUrl":"https://doi.org/10.1002/ajmg.a.70304","url":null,"abstract":"<p><p>LINS1 gene plays a role in cognition and brain development. Mutations in this gene have been identified as the cause of a neurodevelopmental disorder as well as dysmorphisms, motor symptoms, behavioral problems, seizures, microcephaly, mitral valve prolapse, and Q-T prolongation. We recruited two related families with a total of four children affected by LINS1-associated neurodevelopmental disorder. All four subjects have global developmental delay. Congenital heart disease is prominent: Tetralogy of Fallot in two (one with a discontinuous left pulmonary artery), left-sided cardiac hypoplasia with bicuspid aortic valve and membranous VSD in one, and transient aortic dilation with residual mild annular dilation and a small coronary fistula in one. Hyperopia is present in three; the fourth, younger than 2 years, is not yet tested. Dysmorphic features include a long face in two, midface hypoplasia in one, and frontal bossing with prominent eyes in one. All subjects are homozygous for a canonical splice acceptor variant in LINS1 (NM_001040616.3:c.490-1G>C); parents are heterozygous carriers. We extend the phenotypic spectrum of LINS1-associated neurodevelopmental disorder to include significant structural cardiac anomalies and refractive errors. These observations support consideration of cardiac and ophthalmologic evaluation in individuals with biallelic pathogenic LINS1 variants.</p>","PeriodicalId":7507,"journal":{"name":"American Journal of Medical Genetics Part A","volume":" ","pages":""},"PeriodicalIF":1.7,"publicationDate":"2026-09-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148962845","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Severe Phenotype in an Indian Family With Progressive Pseudorheumatoid Arthropathy of Childhood.","authors":"Narinder Singh, Arpita Neogi, Liliane H Gibbs, Jagdish Soni, Elizabeth Chao, Virginia Kimonis","doi":"10.1002/ajmg.a.70233","DOIUrl":"https://doi.org/10.1002/ajmg.a.70233","url":null,"abstract":"<p><p>Progressive pseudorheumatoid arthropathy of childhood (PPAC) is a rare autosomal recessive progressive condition that affects the cartilage of joints and bones. The symptoms of PPAC include stiffness of the joints, bony swelling of the toes and fingers, short stature, kyphosis, and muscle weakness. The radiologic manifestations are often mistaken for juvenile rheumatoid arthritis and include platyspondyly, widened metaphyses, flattened epiphyses, and large femoral heads. The disease is caused by variants in the WISP3 (also known as CCN6) gene, which encodes a member of the WNT1 inducible signaling pathway (WISP) protein subfamily, which belongs to the connective tissue growth factor (CTGF) family. We describe three affected female siblings in an Indian family with PPAC, all of whom manifest a severe phenotype of the disease. The girls all walked with a crouching gait from severe joint contractures. Radiographic findings included generalized periarticular osteopenia and widened metaphyses. The radiographs of the hands and feet showed similar changes with narrow joint spaces, widened metaphyses, and flattened epiphyses. Elbows and knees revealed gracile bones, and contractures with severe muscle atrophy. Spine films were significant for marked beaking, lumbar vertebrae anterior narrowing, irregular end plates and rotational scoliosis. X-rays of the hips revealed deformed femurs, coxa vara, and large flat epiphyses. All affected individuals were compound heterozygotes for two pathogenic variants in the WISP3/CCN6 gene, a novel nonsense variant (c.172A>T [p.Lys58*]) and a 2-base pair deletion (c.740_741delGT [p.Cys247Leufs*31]). This combination of a nonsense and frameshift variant has not previously been reported and may be the explanation for the severe clinical manifestation of PPAC in this family. Further investigation into the mechanism of the disease may provide promising therapies to modify disease progression.</p>","PeriodicalId":7507,"journal":{"name":"American Journal of Medical Genetics Part A","volume":" ","pages":""},"PeriodicalIF":1.7,"publicationDate":"2026-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148944040","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Severe Headbanging Responsive to Levodopa in a Child With FOXP1 Syndrome.","authors":"Pamela Veale, Christopher Tiessen, Vithya Gnanakumar","doi":"10.1002/ajmg.a.70303","DOIUrl":"https://doi.org/10.1002/ajmg.a.70303","url":null,"abstract":"<p><p>We report a 9-year-old female with FOXP1 syndrome due to a de novo in-frame deletion in the FOXP1 gene. The child has a severe neurodevelopmental disorder including global developmental delay and autism spectrum disorder. At age 2, she developed severe headbanging, which was progressive and did not respond to multidisciplinary, behavioral management strategies or to multiple medication treatments. Although repetitive behaviors are frequent in patients with FOXP1 variants, severe and intractable headbanging has not been reported to date. Levodopa/carbidopa was prescribed at age 7 due to progressive foot dystonia and contracture development. This treatment was not clearly beneficial for the dystonia and foot position, but immediate improvement in headbanging was observed and the response sustained for over 19 months. The FOXP1 gene codes for a transcriptional regulator protein that has been shown to regulate the development of brain and spinal motor neurons, and some evidence has linked FOXP1 to the differentiation of midbrain dopaminergic neurons via the homeobox protein PITX3, thus providing a potential mechanism for the observed benefit. This case report may provide expansion of the behavioral phenotype associated with FOXP1 variants and suggests avenues for further animal research and/or clinical trial of levodopa in individuals with FOXP1 variants.</p>","PeriodicalId":7507,"journal":{"name":"American Journal of Medical Genetics Part A","volume":" ","pages":""},"PeriodicalIF":1.7,"publicationDate":"2026-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148910587","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Importance of Familial Co-segregation in the Classification of a Novel PKD1 Variant Associated With Autosomal Dominant Polycystic Kidney Disease.","authors":"Alice Porto Vasconcelos, Liliana Rocha, Susana Fernandes, João Paulo Oliveira","doi":"10.1002/ajmg.a.70298","DOIUrl":"https://doi.org/10.1002/ajmg.a.70298","url":null,"abstract":"<p><p>Autosomal dominant polycystic kidney disease (ADPKD) is a highly penetrant and clinically recognizable disorder, characterized by the presence of multiple bilateral kidney cysts. Variants in the PKD1 or PKD2 genes cause approximately 90% of cases, with the remaining 10% unresolved or caused by variants in other loci. This study demonstrates the utility of segregation studies for classifying genetic variants, as applied to a family with severe ADPKD and a novel PKD1 missense variant. A large family with multiple ADPKD patients is described. Genetic testing was performed using Sanger sequencing (PKD1 and PKD2) or NGS panel (PKD1, PKD2, and PKHD1 genes). CNV were excluded using MLPA (PKD1, PKD2, and PKHD1 genes). Variants were classified using the 2015 ACMG-AMP guidelines, and the full likelihood Bayes factor (FLB) was computed with the \"segregatr\" R-package (Version 0.3.0). The index patient and 13 family members across three generations had ultrasonographic confirmation of typical and progressive ADPKD. Preimplantation genetic testing (PGT) was requested, requiring molecular confirmation. The heterozygous PKD1 VUS c.8999G>C p.(Arg3000Pro) was identified in four affected patients and excluded in one unaffected patient. The FLB is 96.8, which, according to Jarvik and Browning's criteria, reclassified the variant as likely pathogenic. This classification aligned with ClinGen's 2024 recommendations and justified the PGT request. This family is clinically suggestive of PKD1-related ADPKD and shares one VUS in PKD1. FLB calculation enabled a rapid reclassification of the variant, demonstrating the value of segregation studies and accurate clinical phenotyping in genetic variant annotation.</p>","PeriodicalId":7507,"journal":{"name":"American Journal of Medical Genetics Part A","volume":" ","pages":""},"PeriodicalIF":1.7,"publicationDate":"2026-09-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148900088","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Paroxysmal Kinesigenic Gait Disorder in a 6-Year-Old Girl With N-α-Acetyltransferase 10 Related Syndrome (NAA10RS) Associated With c.235C>T (p.R79C): Expanding Phenotype","authors":"William D. Brown","doi":"10.1002/ajmg.a.70204","DOIUrl":"10.1002/ajmg.a.70204","url":null,"abstract":"<div>\u0000 \u0000 <p>A girl had been seen at 15 months of age for developmental expressive language and gross motor delays and had subsequent serially normal neurological evaluations until age 6 years when she developed a new abnormality of gait clinically similar to a paroxysmal kinesigenic dyskinesia for which she tested negative. Multiple maternal family members were known to have a pathogenetic variant in N-α-acetyltransferase 10 (<i>NAA10</i>) [c.235C&gt;T (p.R79C)]. The appearance of a gait disorder in association with <i>NAA10-related</i> syndrome has not been previously described and expands the phenotype of this disorder to include this novel neurological symptom. The relevant literature of the very few cases of <i>NAA10-related</i> syndrome that include passing mention of any movement or gait abnormality is reviewed.</p>\u0000 </div>","PeriodicalId":7507,"journal":{"name":"American Journal of Medical Genetics Part A","volume":"200 10","pages":"2357-2362"},"PeriodicalIF":1.7,"publicationDate":"2026-09-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147939362","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Unusual Head and Neck Vascular Patterns in Two Patients With Cornelia de Lange Syndrome: A Case-Based Insight Into Cerebrovascular Anomalies","authors":"Marina Macchiaiolo,&nbsp;Alessia Carboni,&nbsp;Michaela Veronika Gonfiantini,&nbsp;Davide Vecchio,&nbsp;Andrea Biuso,&nbsp;Giulia Lucignani,&nbsp;Carlo Gandolfo","doi":"10.1002/ajmg.a.70196","DOIUrl":"10.1002/ajmg.a.70196","url":null,"abstract":"<div>\u0000 \u0000 <p>Cornelia de Lange Syndrome (CdLS) is a rare genetic disorder characterized by growth restriction, intellectual disability, skeletal anomalies, and distinctive craniofacial features. We present two pediatric cases of CdLS with previously undescribed cerebrovascular malformations. Cerebrovascular anomalies have not yet been systematically reported in CdLS. Both patients share similar clinical features and comparable complex vascular patterns, including a right aortic arch and an isolated common trunk for the left vertebral and subclavian arteries. The left cerebral hemisphere is primarily supplied via contralateral vessels. These findings suggest a potential link between cohesin gene variants and cerebrovascular development, warranting further investigation into the role of these genes in angiogenesis and the neurovascular phenotypes of CdLS.</p>\u0000 </div>","PeriodicalId":7507,"journal":{"name":"American Journal of Medical Genetics Part A","volume":"200 10","pages":"2345-2349"},"PeriodicalIF":1.7,"publicationDate":"2026-09-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147925550","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Health-Related Quality of Life, Everyday Executive Functioning, and Eating Behavior in Adults With Bardet–Biedl Syndrome","authors":"Cecilie Fremstad Rustad,&nbsp;Charlotte von der Lippe,&nbsp;Hilde Nordgarden,&nbsp;Jeanette Ullmann Miller,&nbsp;Mina Susanne Weedon-Fekjær,&nbsp;Ragnheidur Bragadottir,&nbsp;Solrun Sigurdardottir","doi":"10.1002/ajmg.a.70197","DOIUrl":"10.1002/ajmg.a.70197","url":null,"abstract":"<p>Bardet–Biedl syndrome (BBS) is a rare genetic condition with a broad phenotypic spectrum. Knowledge about quality of life, executive functioning, and eating behavior in adults with BBS remains limited. This study aimed to assess health-related quality of life (HRQoL), everyday executive functioning, and eating behavior in adults with BBS and examine associations among these domains. Thirty adults with BBS (50% male, aged 20–69 years) participated in a cross-sectional study. HRQoL was measured using the Short Form Health Survey (SF-36), everyday executive functioning with the Behavior Rating Inventory of Executive Function—Adult Version (BRIEF-A), and eating behavior with the Three-Factor Eating Questionnaire (TFEQ-R21). Compared with the general population, adults with BBS scored significantly lower on the Physical Functioning, General Health, and Social Function subscales of the SF-36, and 17% of participants fell within the clinically impaired range on the Physical Component Summary. While median BRIEF-A <i>T</i>-scores on subscales were within normative ranges, 7%–13% of participants exhibited BRIEF-A indices scores in the clinically impaired ranges, all of whom had recent depression and reported significant poorer executive difficulties. On the TFEQ-R21, the average cognitive restraint scale showed the highest score. Adults with BBS reported reduced HRQoL in the domains of physical functioning, general health, and social function compared to the general population. Additionally, a small subgroup with recent depression appeared to account for the observed everyday executive difficulties, suggesting that these may be concentrated in those with comorbid depression. This emphasizes the need for multidisciplinary follow-up of individuals with BBS, including focus on everyday executive functioning and eating behavior in addition to medical and psychosocial care.</p><p>\u0000 <b>Trial Registration:</b> ClinicalTrials.gov: NCT05400278</p>","PeriodicalId":7507,"journal":{"name":"American Journal of Medical Genetics Part A","volume":"200 10","pages":"2279-2288"},"PeriodicalIF":1.7,"publicationDate":"2026-09-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/ajmg.a.70197","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147969608","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Lymphatic Abnormalities in Noonan Syndrome Extend Beyond Clinically Apparent Disease","authors":"Inger Norlyk Sheyanth,&nbsp;Benjamin Kelly,&nbsp;Sheyanth Mohanakumar,&nbsp;Steffen Ringgaard,&nbsp;Yoav Dori,&nbsp;Irene Kibæk Nielsen,&nbsp;Uffe Birk Jensen,&nbsp;Vibeke Elisabeth Hjortdal","doi":"10.1002/ajmg.a.70146","DOIUrl":"10.1002/ajmg.a.70146","url":null,"abstract":"<p>Lymphatic disease represents a well-described manifestation of Noonan syndrome (NS), yet the full phenotypic spectrum remains incompletely characterized, especially in asymptomatic individuals. We conducted a cross-sectional study including 10 individuals with NS (four with peripheral lymphedema and six without) and 10 age- and sex-matched cardiovascularly healthy controls. Central lymphatic anatomy was visualized using non-contrast T2-weighted MR-lymphangiography, and peripheral lymphatic morphology and function were assessed with near-infrared fluorescence (NIRF) imaging and strain gauge plethysmography (SGP). Variations in thoracic duct morphology were observed in 89% (8/9) of NS individuals compared to 20% (2/10) of controls. Thoracic lymphatic classifications (Biko/Dori scale) differed significantly in NS individuals, both with and without lymphedema, compared with healthy controls (<i>p</i> &lt; 0.05). Central lymphatic abnormalities were observed in five of nine NS individuals, including three without clinical signs of lymphatic disease. Abnormal peripheral conduction in collective vessels, characterized by retrograde or absent flow, was detected in all four NS individuals with lymphedema (<i>p</i> &lt; 0.05), while normal conduction was observed in asymptomatic NS individuals and controls. Findings from this study indicate that central lymphatic abnormalities may be present in NS regardless of symptom status, with abnormal peripheral conduction developing later in association with clinically manifest lymphedema. Central lymphatic abnormalities extend beyond clinically apparent disease and broaden the recognized phenotype, highlighting the value of lymphatic imaging for diagnosis and monitoring.</p>","PeriodicalId":7507,"journal":{"name":"American Journal of Medical Genetics Part A","volume":"200 10","pages":"2211-2223"},"PeriodicalIF":1.7,"publicationDate":"2026-09-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/ajmg.a.70146","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147809304","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Electrocardiographic and Skin Manifestations of Turner Syndrome: Association With Cardiovascular Disease","authors":"Sarah Elsaim,&nbsp;Brett Vernier,&nbsp;Van Thi Thanh Truong,&nbsp;Riya T. Patel,&nbsp;Matthew Brown,&nbsp;Martin Chacon Portillo,&nbsp;Megan Rogge,&nbsp;David Rodriguez-Buritica,&nbsp;Siddharth K. Prakash","doi":"10.1002/ajmg.a.70200","DOIUrl":"10.1002/ajmg.a.70200","url":null,"abstract":"<p>Congenital heart disease (CHD) and dermatologic conditions such as lymphedema and acquired melanocytic nevi (AMN) are common in Turner Syndrome (TS). We hypothesized that abnormalities of cranial neural crest cell derivatives drive the skin and heart manifestations of TS. We conducted joint cardiac and skin examinations of volunteers at a 2023 national TS conference. Electrocardiographic abnormalities were classified according to the Minnesota Codes. Aortic diameters and cardiac anatomy were assessed using a standardized echocardiographic protocol. The primary outcome was the association between ECG abnormalities and thoracic aortic aneurysms (TAA) or CHD. The secondary outcome was the association between AMN counts and CHD, TAA, or the corrected QT interval (QTc). Among 118 participants (median age 33 years; CHD 39%; TAA ~25%), 35% had major ECG abnormalities, most commonly T-wave inversions and ST depressions; QTc prolongation occurred in 7%. Major ECG abnormalities were associated with larger aortic diameter and were more frequent in CHD, with a trend toward increased TAA (OR 2.8). Notably, 17% without known CHD had ECG abnormalities, and &gt; 25% of these had previously unrecognized TAA. Only 45,X karyotype independently predicted ECG abnormalities. AMN burden was markedly elevated and increased stepwise with combined CHD + TAA (adjusted OR per level 13.1) but was not associated with QTc. ECG abnormalities and AMN burden track with cardiovascular disease severity in TS and may identify individuals with unrecognized aortopathy. These preliminary findings support integrated multimodal screening for CHD in TS, pending validation in larger cohorts.</p>","PeriodicalId":7507,"journal":{"name":"American Journal of Medical Genetics Part A","volume":"200 10","pages":"2234-2240"},"PeriodicalIF":1.7,"publicationDate":"2026-09-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/ajmg.a.70200","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147866160","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Expanding the Genetic and Clinical Spectrum of GZF1-Related Phenotype: A Specific Ocular and Skeletal Disorder Distinguishable From Larsen Syndrome","authors":"Emiy Yokoyama-Rebollar,&nbsp;Camilo E. Villarroel,&nbsp;Tania Barragán-Arévalo,&nbsp;Oscar Francisco Chacón-Camacho,&nbsp;Diana Cristina Orozco-Ávila,&nbsp;Paula Leal-Anaya,&nbsp;Victoria del Castillo-Ruiz,&nbsp;Juan Carlos Zenteno","doi":"10.1002/ajmg.a.70207","DOIUrl":"10.1002/ajmg.a.70207","url":null,"abstract":"<div>\u0000 \u0000 <p>GZF1-related phenotype (GZF1RP) has been referred to by different names, including autosomal recessive Larsen syndrome (LRS) and “joint laxity, short stature, and myopia”. Only ten patients from five families have been reported, all of whom carry biallelic variants of <i>GZF1</i>. They share short stature and joint dislocation with LRS; however, they present with severe ocular manifestations, suggesting that GZF1RP may be specific. In this study, we described three new patients with severe ophthalmologic phenotypes, including congenital glaucoma and abnormal iris morphology. We identified the <i>GZF1</i>: c.1440del (p.His481IlefsTer26) variant in homozygosity in two affected sisters and compound heterozygosity in the third patient: the same c.1440del plus c.1451_1452del (p.Cys484fs). In addition to expanding the molecular spectrum, we identified new radiological findings, such as cervical segmentation defects, carpal shortening, and lower lumbar sacralization, as well as some clinical findings uncommon in previous cases, such as umbilical hernia and congenital heart disease. We also searched for LRS case series with pathogenic variants in <i>FLNB</i> to identify differences between the two entities. The comparison allows us to define a recognizable GZF1RP that includes severe ocular defects, short stature, facial dysmorphism, joint hypermobility/dislocations, scoliosis, thoracic deformity, progressive hearing loss, umbilical hernia, and hypodontia.</p>\u0000 </div>","PeriodicalId":7507,"journal":{"name":"American Journal of Medical Genetics Part A","volume":"200 10","pages":"2309-2319"},"PeriodicalIF":1.7,"publicationDate":"2026-09-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147986246","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}