American Journal of Medical Genetics Part A最新文献_第10页

Speech and Language Disorders Associated With 7q31 Deletions Implicating FOXP2. 与FOXP2相关的7q31缺失相关的言语和语言障碍

IF 1.7 4区生物学

American Journal of Medical Genetics Part A Pub Date : 2025-07-26 DOI: 10.1002/ajmg.a.64190

Lottie D Morison, Ruth Braden, David J Amor, Angela T Morgan

{"title":"Speech and Language Disorders Associated With 7q31 Deletions Implicating FOXP2.","authors":"Lottie D Morison, Ruth Braden, David J Amor, Angela T Morgan","doi":"10.1002/ajmg.a.64190","DOIUrl":"https://doi.org/10.1002/ajmg.a.64190","url":null,"abstract":"Some 7q31 deletions encompass FOXP2, a gene long associated with speech and language disorders. Intragenic pathogenic FOXP2 variants cause FOXP2-related speech and language disorder, which has been well characterized in the literature. Conversely, the phenotype associated with 7q31 deletions is neglected. Here we characterize the phenotype of eight individuals (4 males) with 7q31 deletions (median age 4 years, 3 months, range 1-32 years). Deletion size ranged from 6.8 to 15.2 Mb. All had protracted speech and language milestones, and those with larger deletions had little to no speech. All verbal individuals had childhood apraxia of speech (5/5, 100%). Participants used augmentative and alternative communication (AAC) including key word sign (5/8, 63%), and low-tech (6/8, 75%) and high-tech (4/8, 50%) systems. Oral and written language impairment was universal. The larger the deletion size, the poorer an individual's language skills (p = 0.03, p < 0.05). Daily living, socialization, and motor skills were also impaired. Cognition ranged from average to severely impaired. Childhood feeding impairment (50%), sleep disturbance (38%), structural brain abnormalities (38%), and autism (25%) were noted. All individuals received one or more allied health therapies. Speech and language impairments emphasize the need for early, tailored speech therapy, including literacy and AAC interventions, for individuals with 7q31 deletions.","PeriodicalId":7507,"journal":{"name":"American Journal of Medical Genetics Part A","volume":" ","pages":"e64190"},"PeriodicalIF":1.7,"publicationDate":"2025-07-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144717264","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}

引用次数: 0

Poland Anomaly and Atretic Cephalocele in the Same Child: Coincidence or Association? 波兰畸形和闭锁性头膨出在同一个孩子：巧合还是关联？

IF 1.7 4区生物学

American Journal of Medical Genetics Part A Pub Date : 2025-07-26 DOI: 10.1002/ajmg.a.64197

Alessandra Greta Grassi, Silvia Pontesilli, Laura Demelas, Francesca Vigliani, Massimo Agosti, Angelo Selicorni

引用次数: 0

Challenges in Genomic Variant Interpretation Within Pakistani Populations due to Genomic Healthcare Inequalities. 由于基因组保健不平等，在巴基斯坦人群中基因组变异解释的挑战。

IF 1.7 4区生物学

American Journal of Medical Genetics Part A Pub Date : 2025-07-26 DOI: 10.1002/ajmg.a.64191

Zantasha Khalid, Matthew Adams, Anees Muhammad, Raeesa Tehreen, Arfa Azeem, Asif Ahmed, Nishanka Ubeyratna, Claire G Salter, Joseph S Leslie, Nikol Voutsina, Emma L Baple, Andrew H Crosby, Sabika Firasat, Muhammad Tahir Sarwar, Shamim Saleha, Asma Gul, Lettie E Rawlins

{"title":"Challenges in Genomic Variant Interpretation Within Pakistani Populations due to Genomic Healthcare Inequalities.","authors":"Zantasha Khalid, Matthew Adams, Anees Muhammad, Raeesa Tehreen, Arfa Azeem, Asif Ahmed, Nishanka Ubeyratna, Claire G Salter, Joseph S Leslie, Nikol Voutsina, Emma L Baple, Andrew H Crosby, Sabika Firasat, Muhammad Tahir Sarwar, Shamim Saleha, Asma Gul, Lettie E Rawlins","doi":"10.1002/ajmg.a.64191","DOIUrl":"https://doi.org/10.1002/ajmg.a.64191","url":null,"abstract":"Accurate classification of genomic variants is crucial to ensure correct diagnosis, genetic counseling, and clinical management of monogenic inherited disorders. Variant interpretation can be hindered in populations that are significantly underrepresented in large reference genomic databases, leading to genomic healthcare inequalities. Despite a relatively high prevalence of inherited autosomal recessive diseases within Pakistan, this population remains significantly underrepresented in reference genomic databases. This genomic data disparity, alongside other population characteristics, including limited access to genomic healthcare, high rates of consanguineous unions, tribal, ethnic, and geographical isolation leading to increased autozygosity, can result in frequent challenges in rare variant interpretation. Here, we describe four Pakistani families with rare monogenic disorders in which whole-exome sequencing identified previously unpublished candidate biallelic variants of uncertain significance (VUS) in four genes: INTS1, PPFIBP1, HSPG2, and ACOX3. Our studies highlight the challenges of rare variant interpretation within the Pakistani community, leading to an increased proportion of variants being classified as VUS. Collectively, our findings highlight the need for increased diversity within genomic research to effectively tackle healthcare inequities faced by underrepresented communities.","PeriodicalId":7507,"journal":{"name":"American Journal of Medical Genetics Part A","volume":" ","pages":"e64191"},"PeriodicalIF":1.7,"publicationDate":"2025-07-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144717253","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}

引用次数: 0

Waardenburg Syndrome: Review of Genotype-Phenotype Relationships in 30 Patients in Hong Kong. Waardenburg综合征：香港30例患者基因型-表型关系的回顾

IF 1.7 4区生物学

American Journal of Medical Genetics Part A Pub Date : 2025-07-24 DOI: 10.1002/ajmg.a.64193

Jennifer Y Y Poon, W C Yiu, Stephanie K L Ho, Shirley Sze Wing Cheng, Ho-Ming Luk, Ivan F M Lo

引用次数: 0

Childhood-Onset Neurodegeneration With Progressive Microcephaly (CONPM) due to a DTYMK Homozygous Pathogenic Variant: Outlining the Phenotype of an Ultra-Rare Disease. 由DTYMK纯合致病变异引起的儿童期神经退行性变伴进行性小头畸形（CONPM）：概述一种超罕见疾病的表型

IF 1.7 4区生物学

American Journal of Medical Genetics Part A Pub Date : 2025-07-22 DOI: 10.1002/ajmg.a.64187

Hernández-Carreto Raúl, Acosta-Rodríguez-Bueno Carlos Patricio, Barragán-Arevalo Tania, Ruiz-Robles Osiris, Valdés-Ortega Esteban Alberto, Cerón-Rodríguez Magdalena, Viveros-Rodríguez Romina Tamara, Moreno-Salgado Rodrigo

{"title":"Childhood-Onset Neurodegeneration With Progressive Microcephaly (CONPM) due to a DTYMK Homozygous Pathogenic Variant: Outlining the Phenotype of an Ultra-Rare Disease.","authors":"Hernández-Carreto Raúl, Acosta-Rodríguez-Bueno Carlos Patricio, Barragán-Arevalo Tania, Ruiz-Robles Osiris, Valdés-Ortega Esteban Alberto, Cerón-Rodríguez Magdalena, Viveros-Rodríguez Romina Tamara, Moreno-Salgado Rodrigo","doi":"10.1002/ajmg.a.64187","DOIUrl":"https://doi.org/10.1002/ajmg.a.64187","url":null,"abstract":"Childhood-onset neurodegeneration with progressive microcephaly (CONPM) is a rare autosomal recessive disorder caused by pathogenic variants in the DTYMK gene. This ultra-rare condition is characterized by progressive neurological regression, epilepsy, severe microcephaly, and global cerebral atrophy. Only four cases have been reported in the literature to date. This paper's objective is to describe the fifth globally reported case of CONPM and the first documented in a Mexican patient, confirmed through whole-exome sequencing (WES), and to compare findings with previously reported cases. Clinical evaluation, neuroimaging studies, and genetic analysis using WES followed by Sanger sequencing were performed. Clinical and genetic data were analyzed in the context of existing literature on CONPM. A 2-year-old male with progressive neurodevelopmental regression presented with severe microcephaly, epilepsy, hypertonia, and cortical and cerebellar atrophy. Genetic analysis identified a homozygous missense variant in DTYMK (NM_012145.4:c.242C>T; p.Pro81Leu). This variant is predicted to disrupt dTMP phosphorylation, a key step in the maintenance of dTTP pools required for genomic stability and neural function. This case expands the known phenotypic and genotypic spectrum of CONPM and underscores the importance of considering DTYMK variants in cases of childhood neurodegeneration with microcephaly. Further functional studies are needed to elucidate the mechanisms linking DTYMK dysfunction to neurodegeneration.","PeriodicalId":7507,"journal":{"name":"American Journal of Medical Genetics Part A","volume":" ","pages":"e64187"},"PeriodicalIF":1.7,"publicationDate":"2025-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144688619","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}

引用次数: 0

Undiagnosed Hackathon Ends Diagnostic Odyssey in a Patient With DNA2-Related Rothmund-Thomson Syndrome. 未确诊的黑客马拉松结束了与dna相关的罗斯蒙-汤姆森综合征患者的诊断过程。

IF 1.7 4区生物学

American Journal of Medical Genetics Part A Pub Date : 2025-07-22 DOI: 10.1002/ajmg.a.64179

Beril Ay, Ozlem Akgun-Dogan, Fulya Taylan, Carlo Marcelis, Saygin Abali, Jiin Ying Lim, May Christine Malicdan, Helene Cederroth, Mikk Cederroth, Lorenzo D Botto, Yasemin Alanay

{"title":"Undiagnosed Hackathon Ends Diagnostic Odyssey in a Patient With DNA2-Related Rothmund-Thomson Syndrome.","authors":"Beril Ay, Ozlem Akgun-Dogan, Fulya Taylan, Carlo Marcelis, Saygin Abali, Jiin Ying Lim, May Christine Malicdan, Helene Cederroth, Mikk Cederroth, Lorenzo D Botto, Yasemin Alanay","doi":"10.1002/ajmg.a.64179","DOIUrl":"https://doi.org/10.1002/ajmg.a.64179","url":null,"abstract":"Rothmund-Thomson syndrome (RTS) is an ultra-rare, genetically heterogeneous autosomal recessive genodermatosis characterized by poikiloderma, sparse hair and eyebrows, photosensitivity, and short stature. The recently described RTS type 4 (RTS-4), caused by biallelic variants in the DNA2 gene, is associated with additional distinctive features such as microphthalmia, corneal opacity, congenital cataracts (rather than juvenile), and hypothyroidism. To date, eight individuals with RTS-4 have been reported, all carrying a deep intronic variant in DNA2 (ENST00000358410.8:c.588-2214A>G) and originating from Brazilian or Portuguese ethnic backgrounds. We present the first patient with RTS-4 outside these ethnic backgrounds, harboring the same deep intronic DNA2 variant (ENST00000358410.8:c.588-2214A>G) in combination with a novel pathogenic variant (ENST00000358410.8:c.2519 T>C, Leu840Pro). This patient expands the molecular spectrum of RTS-4 and underscores the critical role of genome sequencing in identifying pathogenic deep intronic variants. Additionally, the patient's response to recombinant human growth hormone treatment is described. Finally, this patient, undiagnosed for several years, was solved through an international effort at the 2024 Undiagnosed Hackathon, highlighting the value of international cooperation and resource sharing toward ensuring that no patient remains undiagnosed.","PeriodicalId":7507,"journal":{"name":"American Journal of Medical Genetics Part A","volume":" ","pages":"e64179"},"PeriodicalIF":1.7,"publicationDate":"2025-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144688621","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}

引用次数: 0

Expanding the Clinical Spectrum of Cousin Syndrome: A Novel Biallelic Missense Variant in TBX15 Causing a Milder Phenotype. 扩展表亲综合征的临床谱：TBX15中一种新的双等位基因错义变异导致较温和的表型。

IF 1.7 4区生物学

American Journal of Medical Genetics Part A Pub Date : 2025-07-22 DOI: 10.1002/ajmg.a.64195

Suzanne E L Detiger, Martijn V Verhagen, Tuula Rinne, Hermine E Veenstra-Knol

{"title":"Expanding the Clinical Spectrum of Cousin Syndrome: A Novel Biallelic Missense Variant in TBX15 Causing a Milder Phenotype.","authors":"Suzanne E L Detiger, Martijn V Verhagen, Tuula Rinne, Hermine E Veenstra-Knol","doi":"10.1002/ajmg.a.64195","DOIUrl":"https://doi.org/10.1002/ajmg.a.64195","url":null,"abstract":"Cousin syndrome is a rare skeletal dysplasia characterized by distinctive facial features, humeroradial synostosis, and hypoplasia of the ilia and scapula. Since the original description of the phenotype in two cases by Cousin in 1982, only three additional cases have been published. A molecular origin was found in homozygous truncating mutations in TBX15, a member of the T-box gene family that encodes transcription factors regulating the developing limb buds. Here we present a sixth patient with a biallelic novel missense variant in TBX15 that causes a milder form of Cousin syndrome. Our patient presented with mild iliac and scapula hypoplasia, bilateral humeroradial dislocation, and a milder version of the distinctive facial appearance. We speculate that the biallelic missense variant in our patient either allows for some residual activity or affects some functions of the protein more than others. This finding expands the clinical spectrum of TBX15-related conditions by adding a milder phenotype caused by a homozygous missense variant.","PeriodicalId":7507,"journal":{"name":"American Journal of Medical Genetics Part A","volume":" ","pages":"e64195"},"PeriodicalIF":1.7,"publicationDate":"2025-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144688620","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}

引用次数: 0

Genotype-Phenotype Correlation in TTC7A-Associated Gastrointestinal Defects and Immunodeficiency Syndrome 1. ttc7a相关胃肠道缺陷和免疫缺陷综合征的基因型-表型相关性

IF 1.7 4区生物学

American Journal of Medical Genetics Part A Pub Date : 2025-07-20 DOI: 10.1002/ajmg.a.64189

Julia Imhoff, Hans Christian Schmidt, Matthias Hans Belau, Johanna Hagens, Mario Lange, Daniel Tegtmeyer, Konrad Reinshagen, Frederike Leonie Harms, Christian Tomuschat

{"title":"Genotype-Phenotype Correlation in TTC7A-Associated Gastrointestinal Defects and Immunodeficiency Syndrome 1.","authors":"Julia Imhoff, Hans Christian Schmidt, Matthias Hans Belau, Johanna Hagens, Mario Lange, Daniel Tegtmeyer, Konrad Reinshagen, Frederike Leonie Harms, Christian Tomuschat","doi":"10.1002/ajmg.a.64189","DOIUrl":"https://doi.org/10.1002/ajmg.a.64189","url":null,"abstract":"Gastrointestinal defects and immunodeficiency syndrome 1 (GIDID1) is a rare autosomal recessive disorder caused by biallelic variants in TTC7A. GIDID1 is characterized by a broad clinical spectrum ranging from very early-onset inflammatory bowel disease (VEOIBD) to multiple intestinal atresia (MIA) with or without immunological manifestations. We report a patient born to consanguineous parents carrying a novel homozygous TTC7A loss-of-function (LOF) variant, NM_001288951.2:c.1322_1323del; p.(Val441Glufs*57). The patient presented with MIA, requiring permanent parenteral nutrition, combined immunodeficiency, anemia, and congenital heart defects, and died at 11 months of age. To improve prognostic insights, we performed a systematic literature review and genotype-phenotype correlation analysis on 87 genetically revised patients, including our case. Our findings confirm a strong association between biallelic TTC7A LOF variants and MIA with (severe) combined immunodeficiency, often necessitating parenteral nutrition. In contrast, biallelic TTC7A missense variants were more frequently linked to milder GIDID1-associated phenotypes, such as VEOIBD. The presence of at least one TTC7A LOF variant correlated with a stronger reduced life expectancy, with a median survival of 9 months compared to 33.5 months in patients with biallelic TTC7A missense variants. Our findings refine genotype-phenotype correlations of TTC7A-associated GIDID1, providing valuable insights for genetic counseling, disease management, and treatment strategies.","PeriodicalId":7507,"journal":{"name":"American Journal of Medical Genetics Part A","volume":" ","pages":"e64189"},"PeriodicalIF":1.7,"publicationDate":"2025-07-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144673742","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}

引用次数: 0

Identification and Characterization of a Novel Biallelic SLC12A2 Variant Associated With Kilquist Syndrome (OMIM #619080). 一种与Kilquist综合征（omim# 619080）相关的新型双等位基因SLC12A2变异的鉴定和表征。

IF 1.7 4区生物学

American Journal of Medical Genetics Part A Pub Date : 2025-07-18 DOI: 10.1002/ajmg.a.64188

Piero Leone, Alessia Nisco, Luciana de Gennaro, Maria Tolomeo, Elisa Lorefice, Giuseppe Petrosillo, Silvia Russo, Donatella De Giovanni, Claudia Rita Catacchio, Francesca Romana Lepri, Mario Ventura, Simonetta Simonetti, Albina Tummolo, Maria Barile

{"title":"Identification and Characterization of a Novel Biallelic SLC12A2 Variant Associated With Kilquist Syndrome (OMIM #619080).","authors":"Piero Leone, Alessia Nisco, Luciana de Gennaro, Maria Tolomeo, Elisa Lorefice, Giuseppe Petrosillo, Silvia Russo, Donatella De Giovanni, Claudia Rita Catacchio, Francesca Romana Lepri, Mario Ventura, Simonetta Simonetti, Albina Tummolo, Maria Barile","doi":"10.1002/ajmg.a.64188","DOIUrl":"https://doi.org/10.1002/ajmg.a.64188","url":null,"abstract":"This study presents the case of a child with multiple congenital anomalies, severe hypotonia, and profound bilateral sensorineural hearing loss. Functional bioenergetic assessments showed no significant mitochondrial respiratory defects, and riboflavin (Rf) status evaluation excluded a deficiency in Rf transporters as a cause of hearing loss. Clinical findings were consistent with Kilquist syndrome (KILQS), and genetic investigations confirmed the diagnosis by identifying a novel homozygous splice-site variant, c.[3101-1G>C];[3101-1G>C], in the SLC12A2 gene, which encodes the Na+-K+-2Cl- Cotransporter 1 (NKCC1) protein. The effect of this mutation was further investigated using exon-walking PCR and Sanger sequencing, which confirmed exon 23 skipping in the patient's mRNA, resulting in a truncated NKCC1 protein. In silico structural modeling suggested compromised dimerization stability, which was supported by immunoblotting analysis, revealing the absence of the dimeric form of NKCC1 in patient-derived peripheral blood mononuclear cells. This study provides critical insights into the molecular and structural consequences of NKCC1 disruption, contributing to the understanding of its role in KILQS pathogenesis. Further studies are needed to elucidate the precise molecular mechanisms and explore potential therapeutic interventions.","PeriodicalId":7507,"journal":{"name":"American Journal of Medical Genetics Part A","volume":" ","pages":"e64188"},"PeriodicalIF":1.7,"publicationDate":"2025-07-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144658137","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}

引用次数: 0

Two New Families With TAF13 Variant Presenting With Syndromic 46,XY Disorder of Sex Development: Expanding the Clinical Phenotype. 两个新的TAF13变异家族表现为性发育综合征46，xy障碍：扩大临床表型

IF 1.7 4区生物学

American Journal of Medical Genetics Part A Pub Date : 2025-07-18 DOI: 10.1002/ajmg.a.64183

Hasan Arı, Ayberk Türkyılmaz, Ayşe Burcu Doğan Arı, Hakan Kardeş, Abdullah Sezer, Emine Ayça Cimbek, Şenay Savaş Erdeve, Gülay Karagüzel

{"title":"Two New Families With TAF13 Variant Presenting With Syndromic 46,XY Disorder of Sex Development: Expanding the Clinical Phenotype.","authors":"Hasan Arı, Ayberk Türkyılmaz, Ayşe Burcu Doğan Arı, Hakan Kardeş, Abdullah Sezer, Emine Ayça Cimbek, Şenay Savaş Erdeve, Gülay Karagüzel","doi":"10.1002/ajmg.a.64183","DOIUrl":"https://doi.org/10.1002/ajmg.a.64183","url":null,"abstract":"Intellectual developmental disorder, autosomal recessive 60 (MRT60, #617432) is an ultrarare genetic disorder characterized by microcephaly, intellectual disability, growth retardation, seizure, and central nervous system abnormalities. The disease is caused by biallelic variants in the TATA box-binding protein-associated factor gene (TAF13) gene. To date, only four patients with MRT60 have been reported in the literature. In this study, two new patients were presented, exhibiting similar phenotypic features including microcephaly, intellectual disability, and prominent growth retardation. Whole exome analysis revealed a pathogenic variant (c.119T>A p.Met40Lys) in the TAF13 gene. The 46,XY disorder of sex development was only present in the current patients and is a new finding for this ultrarare disorder. Since TAF13 plays a role in transcriptional regulation, it is believed to potentially cause gonadal dysfunction. To obtain a better understanding of this disorder, it is essential to conduct comprehensive functional studies that can provide deeper insights into the underlying mechanisms.","PeriodicalId":7507,"journal":{"name":"American Journal of Medical Genetics Part A","volume":" ","pages":"e64183"},"PeriodicalIF":1.7,"publicationDate":"2025-07-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144658138","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}

引用次数: 0