Clinical Genetics最新文献

{"title":"The p.(Gly111Arg) ABCC8 Variant: A Founder Mutation Causing Congenital Hyperinsulinism in the Indian Agarwal Community","authors":"Vandana Jain,&nbsp;Venkatesan Radha,&nbsp;Viswanathan Mohan,&nbsp;Matthew N. Wakeling,&nbsp;Jasmin J. Bennett,&nbsp;Sarah E. Flanagan","doi":"10.1111/cge.14657","DOIUrl":"10.1111/cge.14657","url":null,"abstract":"<p>Loss-of-function <i>ABCC8</i> variants are the commonest cause of congenital hyperinsulinism. On a systematic search of our databases, the p.(Gly111Arg) <i>ABCC8</i> variant was identified in 26 individuals, of which 23 were from the Indian Agarwal community. Haplotype analysis subsequently confirmed that p.(Gly111Arg) is a founder variant in the Agarwal population.\u0000 <figure>\u0000 <div><picture>\u0000 <source></source></picture><p></p>\u0000 </div>\u0000 </figure>\u0000 </p>","PeriodicalId":10354,"journal":{"name":"Clinical Genetics","volume":"107 3","pages":"364-365"},"PeriodicalIF":2.9,"publicationDate":"2024-11-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/cge.14657","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142726577","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Skipping of Exon 20 in EP300: A Novel Variant Linked to Rubinstein–Taybi Syndrome With Atypical and Severe Clinical Manifestations","authors":"Lisa Pavinato,&nbsp;Silvia Carestiato,&nbsp;Slavica Trajkova,&nbsp;Lorena Sorasio,&nbsp;Giovanna Mantovani,&nbsp;Luisa De Sanctis,&nbsp;Jennifer Kerkhof,&nbsp;Haley McConkey,&nbsp;Jessica Rzasa,&nbsp;Emily Todd,&nbsp;Maria Balzo,&nbsp;Simona Cardaropoli,&nbsp;Alessandro Bruselles,&nbsp;Silvia De Rubeis,&nbsp;Joseph D. Buxbaum,&nbsp;Marco Tartaglia,&nbsp;Bekim Sadikovic,&nbsp;Giovanni Battista Ferrero,&nbsp;Alfredo Brusco","doi":"10.1111/cge.14654","DOIUrl":"10.1111/cge.14654","url":null,"abstract":"<p>Rubinstein–Taybi syndrome (RSTS) is a rare autosomal dominant neurodevelopmental disorder linked to haploinsufficiency of <i>CREBBP</i> (RSTS1) and <i>EP300</i> (RSTS2) genes. Characteristic features often include distinctive facial traits, broad thumbs and toes, short stature, and various degrees of intellectual disability. The clinical presentation of RSTS is notably variable, making it challenging to establish a clear genotype–phenotype correlation, except for specific variants which cause the allelic Menke–Hennekam syndrome. Trio exome analysis, data collection via networking and GeneMatcher platforms, transcript processing analysis, and DNA methylation profiling were performed. We identified two unrelated patients with de novo variants in <i>EP300</i> (NM_001429.4: c.3671+5G&gt;C; c.3671+5_3671+8delGTAA) predicted to cause in-frame exon 20 skipping, confirmed in one patient. In silico 3D protein modeling suggested that exon 20 deletion (comprising 27 amino acids) likely alters the structural conformation between the RING_CBP-p300 and HAT-KAT11 domains. Clinically, both patients displayed severe RSTS2-like clinical features, including autism spectrum disorder, speech delay, hearing loss, microcephaly, developmental delay, and intellectual disability, alongside ocular, respiratory, and cardiovascular abnormalities. Additionally, one patient developed early-onset colorectal cancer. DNA methylation profiling in Subject #1 confirmed RSTS but did not align with the specific episignatures for RSTS1 or RSTS2. We propose that skipping of exon 20 in <i>EP300</i> is associated with a distinct form of Rubinstein–Taybi syndrome featuring clinical characteristics not fully aligning with RSTS1 or RSTS2. Our findings increase the understanding of RSTS genetic and molecular basis and stress the need for further research to establish definitive genotype–phenotype correlations.</p>","PeriodicalId":10354,"journal":{"name":"Clinical Genetics","volume":"107 3","pages":"354-358"},"PeriodicalIF":2.9,"publicationDate":"2024-11-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/cge.14654","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142738664","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Novel BRAT1 Deep Intronic Variant Affects Splicing Regulatory Elements Causing Cerebellar Hypoplasia Syndrome: Genotypic and Phenotypic Expansion","authors":"Tomer Poleg,&nbsp;Regina Proskorovski-Ohayon,&nbsp;Vadim Dolgin,&nbsp;Noam Hadar,&nbsp;Amit Safran,&nbsp;Nadav Agam,&nbsp;Matan M. Jean,&nbsp;Ofek Freund,&nbsp;Libe Gradstein,&nbsp;Ilan Shelef,&nbsp;Yair Sadaka,&nbsp;Ohad S. Birk","doi":"10.1111/cge.14653","DOIUrl":"10.1111/cge.14653","url":null,"abstract":"<div>\u0000 \u0000 <p>Biallelic mutations in <i>BRAT1</i> result in lethal neonatal rigidity and multifocal seizure syndrome and a milder neurodevelopmental disorder of cerebellar atrophy with or without seizures (NEDCAS, MIM 618056). Combining linkage analysis and whole-genome sequencing (WGS), we identified a novel deep intronic <i>BRAT1</i> variant, NC_000007.14 (NM_152743.4):c.128-1585 T &gt; G, in 3 siblings of a consanguineous Bedouin family exhibiting NEDCAS. In silico analyses followed by molecular studies demonstrated this variant's impact on splice regulatory elements, forming a cryptic exon, resulting in a deleterious frameshift and aberrant transcript. Previously reported pathogenic <i>BRAT1</i> splice-site mutations were adjacent to exons, affecting canonical consensus splice sites, and identifiable by whole-exome sequencing. The deep intronic <i>BRAT1</i> disease-causing variant is thus unique and underscores the potential of intronic splice regulatory elements in <i>BRAT1</i> disease pathogenesis, demonstrating the utility of WGS in identifying noncoding variants in unresolved cases. The affected individuals (deep into their twenties) are among the longest-surviving patients described to date—delineating the NEDCAS phenotype at these ages. Although sharing homozygosity of the same variant, they show varying penetrance of nystagmus and extreme variability in the extent of ataxia and age of onset of developmental delay. Notably, we summarize all documented <i>BRAT1</i> splice variants reported to date and their phenotypic associations.</p>\u0000 </div>","PeriodicalId":10354,"journal":{"name":"Clinical Genetics","volume":"107 3","pages":"348-353"},"PeriodicalIF":2.9,"publicationDate":"2024-11-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142715575","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Mobile Element Insertion in the APOB Exon 3 Coding Sequence: A New Challenge in Hypobetalipoproteinemia Diagnosis","authors":"Laurie Surles,&nbsp;Alexandre Janin,&nbsp;Corentin Molitor,&nbsp;Nicolas Chatron,&nbsp;Myriam Moret,&nbsp;Séverine Nony,&nbsp;Sabrina Dumont,&nbsp;Oriane Marmontel,&nbsp;Thomas Simonet,&nbsp;Agnès Sassolas,&nbsp;Philippe Moulin,&nbsp;Mathilde Di Filippo","doi":"10.1111/cge.14655","DOIUrl":"10.1111/cge.14655","url":null,"abstract":"<div>\u0000 \u0000 <p>Mobile elements (ME) can transpose by copy-and-paste mechanisms. A heterozygous insertion in <i>APOB</i> exon 3 coding sequence was suspected in a patient with hypobetalipoproteinemia (HBL), by gel electrophoresis of the PCR products. An insertion of a 85 bp fragment flanked by a polyA stretch and a target replication site duplication was identified as a ME insertion (MEI) from the AluYa5 subfamily, NM_000384.3(APOB):c.135_136ins(160). Then, the DNA was reanalyzed using our NGS custom panel. Routine analysis did not reveal any causative variant, but manual inspection of the alignments and MELT enabled us to detect this MEI from NGS data. A functional study revealed that this MEI introduces a stop codon p.(Phe46Alafs*2) and additionally leads to p.(Lys41Serfs*2) due to an exon skipping. This is the first report of a MEI into <i>APOB</i>, as a cause of HBL. Furthermore, our study highlights the value of including MEI-callers in routine pipelines to improve primary dyslipidemia diagnosis.</p>\u0000 </div>","PeriodicalId":10354,"journal":{"name":"Clinical Genetics","volume":"107 3","pages":"359-363"},"PeriodicalIF":2.9,"publicationDate":"2024-11-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142715574","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Rare Causes and Differential Diagnosis in Patients With Silver-Russell Syndrome","authors":"Barbara Leitao Braga,&nbsp;Renata da Cunha Scalco,&nbsp;Thais Kataoka Homma,&nbsp;Bruna Lucheze Freire,&nbsp;Laurana De Polli Cellin,&nbsp;Ana Pinheiro Machado Canton,&nbsp;Antônio Marcondes Lerario,&nbsp;Mariana Ferreira de Assis Funari,&nbsp;Vinicius de Souza,&nbsp;Debora Romeo Bertola,&nbsp;Alexsandra Christianne Malaquias,&nbsp;Berenice Bilharinho Mendonca,&nbsp;Alexander Augusto de Lima Jorge","doi":"10.1111/cge.14659","DOIUrl":"10.1111/cge.14659","url":null,"abstract":"<div>\u0000 \u0000 <p>Silver-Russell syndrome (SRS) is an imprinting disorder mainly characterized by pre- and postnatal growth restriction. Most SRS cases are due to 11p15.5 loss of methylation (11p15.5 LOM) or maternal uniparental disomy of chromosome 7 [UPD(7)mat], but several patients remain molecularly undiagnosed. This study describes the molecular investigation of children with a clinical diagnosis or suspicion of SRS at a tertiary center specialized in growth disorders. Thirty-nine patients were evaluated with multiplex ligation-dependent probe amplification, chromosomal microarray and/or massively parallel sequencing. The most common result was 11p15.5 LOM (<i>n</i> = 17; 43.5%), followed by UPD(7)mat (<i>n</i> = 2; 5.1%). Additionally, we found maternal duplications of the imprinting centers in 11p15.5 (<i>n</i> = 2; 5.1%), and genetic defects in SRS-causing genes (<i>IGF2</i> and <i>HMGA2</i>) (<i>n</i> = 3; 7.7%; two mutations and one deletion). Alternative molecular diagnoses included UPD(14)mat (<i>n</i> = 1; 2,6%), UPD(20)mat (<i>n</i> = 1;2,6%), copy number variants (<i>n</i> = 2; 5.1%), and mutations in genes associated with other growth disorders (<i>n</i> = 4; 10.3%), leading to diagnoses of Temple syndrome, Mulchandani-Bhoj-Conlin syndrome, IGF-1 resistance (<i>IGF1R</i>), Bloom syndrome (<i>BLM</i>), Gabriele-De Vries syndrome (<i>YY1</i>), Intellectual developmental disorder autosomal dominant 50 with behavioral abnormalities (<i>NAA15</i>), and Intellectual developmental disorder 64 (<i>ZNF292</i>). These findings underscore the importance of establishing the molecular diagnosis of SRS and its differential diagnoses to guide appropriate management and genetic counseling.</p>\u0000 </div>","PeriodicalId":10354,"journal":{"name":"Clinical Genetics","volume":"107 4","pages":"441-445"},"PeriodicalIF":2.9,"publicationDate":"2024-11-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142715576","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Skeletal Phenotype in Mulibrey Nanism, A Monogenic Skeletal Dysplasia With Fibrous Dysplasia","authors":"Susann Karlberg,&nbsp;Sanna Toiviainen-Salo,&nbsp;Marita Lipsanen-Nyman,&nbsp;Outi Mäkitie","doi":"10.1111/cge.14647","DOIUrl":"10.1111/cge.14647","url":null,"abstract":"<p>Mulibrey nanism (MUL) is a monogenic growth disorder caused by mutations in <i>TRIM37</i>, with pre-and postnatal growth failure, typical craniofacial features, perimyocardial heart disease, infertility and predisposition to tumors. Clinically, patients are gracile with relative macrocephaly, thin extremities, and narrow shoulders, but the full spectrum of skeletal features remains unknown. We conducted a cross-sectional study in order to further clarify the skeletal phenotype. We assessed radiographs of the long bones and spine in 33 MUL patients, aged 4.5–48 years (14 females and 19 males, median age 16.7 years) for skeletal features. Hospital records were reviewed for clinical characteristics and fractures. Results confirmed significant skeletal abnormalities related to MUL. Skeletal changes were present in all patients; long bones were slender and bowed with broad metaphyses and narrow diaphysis, the cortices were thick, and medullary cavities were narrow. The vertebral bodies were tall. Fibrous dysplasia was found in 19/33 patients (58%); changes were monostotic in 58% and polyostotic in 42%. Altogether 17/33 patients (52%) had a history of fractures. This study confirms that in addition to short stature, patients with MUL have a specific skeletal dysplasia. Our findings suggest an important role for TRIM37 in cellular functions governing skeletal modelling and remodelling.</p>","PeriodicalId":10354,"journal":{"name":"Clinical Genetics","volume":"107 3","pages":"271-277"},"PeriodicalIF":2.9,"publicationDate":"2024-11-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/cge.14647","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142667450","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"BRCC3-Associated Syndromic Moyamoya Angiopathy Diagnosed Through Clinical RNA Sequencing","authors":"Myrrhe Venema,&nbsp;Fatimah Albuainain,&nbsp;Rachel Schot,&nbsp;Bob Roozenbeek,&nbsp;Frank Sleutels,&nbsp;Tjakko van Ham,&nbsp;Tahsin Stefan Barakat","doi":"10.1111/cge.14650","DOIUrl":"10.1111/cge.14650","url":null,"abstract":"<p>Moyamoya angiopathy is a cerebral vasculopathy causing progressive stenosis of the internal carotid arteries and the compensatory development of collateral blood vessels, leading to brain ischemia and an increased risk of cerebral haemorrhage. Although multiple non-genetic causes have been associated with moyamoya syndrome, it can also be associated with rare genetic syndromes. Moyamoya Disease 4, characterised by a short stature, hypergonadotropic hypogonadism and facial dysmorphism (MYMY4, OMIM #300845), also referred to as <i>BRCC3-</i>associated moyamoya syndrome, has so far been described in 11 individuals. Here, we describe a 23-year-old male presenting with moyamoya syndrome, global developmental delay and intellectual disability, epilepsy, short stature and dysmorphic features, who after &gt; 17 years of uninformative diagnostics was diagnosed with <i>BRCC3-</i>associated moyamoya syndrome after clinical RNA-seq. Transcriptome analysis showed reduced expression of the likely disease-causing gene <i>BRCC3</i> in patient-derived fibroblasts, which was subsequently found to be caused by a ~ 26 kb Xq28 deletion. We furthermore review all reported cases of <i>BRCC3-</i>associated moyamoya syndrome, further delineating this clinical entity.</p>","PeriodicalId":10354,"journal":{"name":"Clinical Genetics","volume":"107 3","pages":"341-347"},"PeriodicalIF":2.9,"publicationDate":"2024-11-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/cge.14650","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142645979","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genetic, Clinical, and Biochemical Characterization of a Large Cohort of Palestinian Patients With Fanconi-Bickel Syndrome","authors":"Tamer Hodrob,&nbsp;Alaaeddin Abusalameh,&nbsp;Ibrahim Ismail,&nbsp;Imad Dweikat,&nbsp;Sarah Abu Rmeilah,&nbsp;Mutaz Sultan,&nbsp;Bassam Abu Libdeh,&nbsp;Abd-Al-Salam Abu Libdeh,&nbsp;Shaher Shweiki,&nbsp;Nadirah Damseh","doi":"10.1111/cge.14648","DOIUrl":"10.1111/cge.14648","url":null,"abstract":"<div>\u0000 \u0000 <p>This study aims to investigate the clinical, biochemical, and genetic characteristics of Fanconi-Bickel syndrome (FBS) in a cohort of 20 individuals from Palestine and to identify novel pathogenic variants. A retrospective analysis was conducted on medical records from Al-Makassed Hospital's pediatric department spanning 2015 to 2023. Individuals diagnosed with FBS via molecular genetic testing were included in the study. Among the 20 genetically confirmed FBS patients, hepatomegaly was prevalent in 95%, whereas 70% exhibited both developmental delay and hypophosphatemic rickets, and 68.4% experienced growth retardation. Hypertriglyceridemia (HTG) was universal. Elevated liver enzymes and alkaline phosphatase were common, along with hypophosphatemia (95%) and urinary abnormalities. Genetic analysis revealed five distinct SLC2A2 pathogenic variants, including three previously unreported variants: p.Gln23Arg (c.68A &gt; G), p.Thr353Arg (c.1058_1059delinsGG), and an exon 7 deletion. This study presents the largest single-center cohort of FBS patients, expanding our understanding of the disorder's phenotypic and genotypic spectrum. Despite FBS generally carrying a favorable prognosis, timely diagnosis remains crucial to prevent severe complications.</p>\u0000 </div>","PeriodicalId":10354,"journal":{"name":"Clinical Genetics","volume":"107 3","pages":"335-340"},"PeriodicalIF":2.9,"publicationDate":"2024-11-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142643884","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"AMOTL1-Associated Multiple Congenital Anomalies (Craniofaciocardiohepatic Syndrome, CFCHS): A Novel Clinical Spectrum Including Craniofacial, Heart and Liver Abnormalities","authors":"Natalia Gallego-Zazo,&nbsp;Jair Tenorio-Castano,&nbsp;Alejandro Parra,&nbsp;Julián Nevado,&nbsp;Mario Cazalla,&nbsp;Elsa Lucas-Castro,&nbsp;Karen E. Heath,&nbsp;María Palomares,&nbsp;Emma Soengas,&nbsp;M. Dolores Lledín,&nbsp;Emily Larrea,&nbsp;Antonio Olveira,&nbsp;Beatriz Morte,&nbsp;Ángel Carracedo,&nbsp;Pablo Lapunzina","doi":"10.1111/cge.14644","DOIUrl":"10.1111/cge.14644","url":null,"abstract":"<p>We identified an <i>AMOTL1</i> variant in a patient that adds evidence supporting the clinical and molecular overlap between AMOTL1-related disorders and other syndromes affecting craniofacial, cardiac, and hepatic development. As more cases are identified, we propose naming this entity as <i>AMOTL1</i>-associated multiple congenital anomalies or craniofaciocardiohepatic syndrome (CFCHS).\u0000 <figure>\u0000 <div><picture>\u0000 <source></source></picture><p></p>\u0000 </div>\u0000 </figure>\u0000 </p>","PeriodicalId":10354,"journal":{"name":"Clinical Genetics","volume":"107 2","pages":"234-236"},"PeriodicalIF":2.9,"publicationDate":"2024-11-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142616069","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Novel Compound Heterozygous Genotype of the WDR73 Gene Associated With a Psychomotor Retardation Syndrome Without Cerebellar Atrophy and Other CNS Structural Abnormalities","authors":"Enrique Nogueira,&nbsp;Beatriz del Olmo,&nbsp;Lara Babín,&nbsp;Génesis Vizuete,&nbsp;Concepción Lobo,&nbsp;Cecilia González","doi":"10.1111/cge.14645","DOIUrl":"10.1111/cge.14645","url":null,"abstract":"<p>A novel compound heterozygous genotype of the <i>WDR73</i> gene associated with a psychomotor retardation syndrome without cerebellar atrophy and other CNS structural abnormalities.\u0000 <figure>\u0000 <div><picture>\u0000 <source></source></picture><p></p>\u0000 </div>\u0000 </figure>\u0000 </p>","PeriodicalId":10354,"journal":{"name":"Clinical Genetics","volume":"107 2","pages":"237-239"},"PeriodicalIF":2.9,"publicationDate":"2024-11-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142616068","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}