Journal of Human Genetics最新文献

{"title":"Somatic and mosaic HRAS mutations in pediatric malignant ectomesenchymoma","authors":"Anastasiya S. Salomatina, Tatyana V. Zaslavskaya, Vitaly Y. Roshchin, Nina V. Gegeliya, Ruslan K. Abasov, Liudmila A. Yasko, Natalia A. Andreeva, Varvara V. Brilliantova, Maria A. Kurnikova, Natalia Y. Usman, Vera S. Petrova, Yulia E. Zueva, Dmitry M. Konovalov, Grigory A. Tsaur, Denis Y. Kachanov, Alexander E. Druy","doi":"10.1038/s10038-025-01363-9","DOIUrl":"10.1038/s10038-025-01363-9","url":null,"abstract":"Malignant ectomesenchymoma (ME), a rare tumor of soft tissues, has a neuroectodermal component of neuroblasts and/or ganglion cells, and a mesenchymal component mostly often represented by rhabdomyoblasts. Considering the peculiar and variable morphological structure of ectomesenchymomas, establishing the correct histological diagnosis can be challenging. The investigation presents 5 cases of ME, including 3 sporadic forms and 2 tumors in patients with neurocutaneous syndrome. Morphological and genetic tumor profiles were analyzed using immunohistochemical marker panel, coupled reverse transcription PCR and customized DNA-based NGS panel. The identified somatic variants were interpreted in accordance with the AMP/ASCO/CAP Guideline recommendations. In 4 out of 5 cases, mutations in HRAS typical for ME were detected. Two patients with HRAS mutation and phenotypic features of neurocutaneous epidermal nevus syndrome and nevus sebaceous syndrome had the pathogenic HRAS variant in a spectrum of biological materials including healthy tissues with different varying allele frequency (VAF). The molecular genetic findings indicate a post-zygotic origin of the pathogenic mutation in HRAS, associated with the mosaic phenotype, in both cases. Morphological and genetic profiles were analyzed in 5 pediatric cases of ME. The investigation revealed expression of neuroblastic and mesenchymal markers in corresponding components of the tumors. The majority of cases harbored HRAS gene variants in ME samples, 2 patients with neurocutaneous syndrome had the pathogenic HRAS variant with different VAF in various biological material including healthy tissues, that exposed the driver event as postzygotic, occurring not later than the stage of migrating ectomesenchyme originating from the neural crest. These are the first descriptions of ME against a somatic mosaicism background.","PeriodicalId":16077,"journal":{"name":"Journal of Human Genetics","volume":"70 10","pages":"497-501"},"PeriodicalIF":2.5,"publicationDate":"2025-07-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144591444","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Molecular genetics of myotonic dystrophy and the evolution of therapeutic approaches.","authors":"Joe Nemoto, Masayuki Nakamori","doi":"10.1038/s10038-025-01358-6","DOIUrl":"10.1038/s10038-025-01358-6","url":null,"abstract":"<p><p>Myotonic dystrophy (DM) is the most common form of adult-onset muscular dystrophy, characterized by skeletal muscle symptoms such as myotonia and progressive muscle wasting, alongside a wide array of multisystemic manifestations affecting the cardiovascular, gastrointestinal, central nervous, endocrine, and ocular systems. DM is an autosomal dominant disorder caused by the unstable expansion of non-coding repeat sequences within the disease-causative genes. The mutant transcripts harboring these expanded repeats exert pathogenic effects via a toxic gain-of-function mechanism, most notably through RNA mediated toxicity that perturbs alternative splicing regulation and contributes to the diverse clinical phenotype. Beyond splicing defects, aberrant signal transduction and the activation of cellular senescence pathways have also been implicated in disease pathophysiology. This review summarizes current understanding of the molecular genetics and mechanistic basis of DM, outlines recent progress in therapeutic development-particularly RNA-targeted strategies involving nucleic acid-based therapeutics and small molecules-and explores emerging approaches aimed at modulating repeat expansions as a means to mitigate disease progression.</p>","PeriodicalId":16077,"journal":{"name":"Journal of Human Genetics","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-07-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144553701","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A novel USP27X missense variant identified in an individual with intellectual disability","authors":"Sukun Luo,&nbsp;Meng Zhang,&nbsp;Xiankai Zhang,&nbsp;Yufeng Huang,&nbsp;Li Tan,&nbsp;Peiwei Zhao,&nbsp;Hongmin Zhu,&nbsp;Xuelian He","doi":"10.1038/s10038-025-01359-5","DOIUrl":"10.1038/s10038-025-01359-5","url":null,"abstract":"X-linked intellectual disability (XLID) is a group of neurodevelopmental disorders with genetic heterogeneity. Mutation of USP27X, a deubiquitinase encoding gene, is associated with X-linked intellectual developmental disorder-105 (XLID105), which is characterized by different combinations of impaired intellectual development (ID), developmental delay (DD), autism spectrum, attention deficit hyperactivity disorder and anxiety. Now only fourteen genetically diagnosed individuals have been reported. Here we describe a three-year boy with mild abnormal facial features, DD, severe speech delay and cognitive impairment, and ventricular septal defect. In addition, an increased nuchal translucency was observed during the fetal period. Trio whole-exome sequencing identified a novel missense variant, c.257 C &gt; T (p.Thr86Met), in the USP27X gene (NM_001145073), which is inherited from his healthy mother and assessed to be a variant of uncertain significance. Further in vitro function study shows that this variant is detrimental to the expression and deubiquitination activity of USP27X. Our study provides more pathogenic evidences for this variant identified, and link this variant to the XLID-105 disease. In conclusion, our report expands the clinical and genetic spectrum of USP27X. Clinical trial registration: ChiCTR2000034358.","PeriodicalId":16077,"journal":{"name":"Journal of Human Genetics","volume":"70 9","pages":"489-494"},"PeriodicalIF":2.5,"publicationDate":"2025-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144540502","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Molecular genetics of dystrophinopathy.","authors":"Mariko Okubo","doi":"10.1038/s10038-025-01357-7","DOIUrl":"https://doi.org/10.1038/s10038-025-01357-7","url":null,"abstract":"<p><p>Dystrophinopathies, including Duchenne and Becker muscular dystrophies, are caused by pathogenic variants in the DMD gene, which spans 2.5 Mb and encodes multiple tissue-specific dystrophin isoforms. Advances in molecular diagnostic techniques have expanded our ability to detect a broad spectrum of DMD variants, including exonic deletions/duplications, small variants such as single-nucleotide variants and indels, and intronic rearrangements that disrupt splicing. Transcriptomic and long-read genomic analyses have revealed previously undetectable mechanisms of variation, including pseudoexon inclusion, intronic polyadenylation, and repeat expansions, underscoring the importance of integrating RNA-level data and in silico predictions into diagnostics. Genotype-phenotype correlations are influenced by the type and location of variants and by other factors, such as naturally occurring exon skipping and modifier genes. For instance, partial dystrophin expression caused by exon skipping in patients with certain nonsense variants can result in a milder Becker-like phenotype. These findings highlight the clinical significance of functional assays, such as minigene splicing reporters and immunostaining, in refining variant interpretation. This review summarizes the spectrum of DMD variants and outlines a stepwise diagnostic approach that integrates genetic, transcriptomic, and computational data. Special consideration is given to subgroups, such as female carriers and patients with mild phenotypes, in whom molecular diagnosis can be particularly challenging. Although therapeutic strategies are not the primary focus of this article, accurate molecular diagnosis forms the foundation for guiding individualized care. Together, these insights emphasize the value of integrated multi-omic variant assessment in improving diagnostic accuracy and patient management for dystrophinopathies.</p>","PeriodicalId":16077,"journal":{"name":"Journal of Human Genetics","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144540504","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Approaches to diagnostic screening for congenital disorders of glycosylation and its prevalence in Japan.","authors":"Nobuhiko Okamoto, Machiko Kadoya, Yoshinao Wada","doi":"10.1038/s10038-025-01362-w","DOIUrl":"https://doi.org/10.1038/s10038-025-01362-w","url":null,"abstract":"<p><p>Congenital disorders of glycosylation (CDG) represent an emerging and significant category within the spectrum of inborn errors of metabolism. CDG comprise a heterogeneous group of diseases caused by defects at various stages of the glycosylation pathway. Each year, new types of CDG are identified, and to date, pathogenic variants in 189 genes have been associated with over 200 distinct human glycosylation-related disorders. Each type of CDG exhibits characteristic clinical features. Many of CDG result in multisystem involvement, with the central nervous system being particularly affected. Clinical manifestations are highly variable and may include developmental delays, growth impairment, neurological abnormalities such as ataxia, hepatic dysfunction, cardiac defects, coagulation disorders, and abnormal fat distribution. In patients with unexplained neurological symptoms, it is now standard practice to include CDG in the differential diagnosis. Detection of altered glycosylation patterns in serum proteins is essential in the diagnostic evaluation of CDG. Analytical techniques allow the identification of defects in N-glycosylation, O-glycosylation, and combined glycosylation pathways. Once abnormalities in glycosylation are detected, subsequent genetic analysis is necessary to identify causative variants. Our research institute has contributed to the CDG diagnostic support center in Japan by developing novel analytical methods utilizing mass spectrometry. Through these efforts, we have facilitated the molecular diagnosis of 66 patients with CDG across Japan. In this report, we provide an overview of the current landscape of CDG in Japan, along with a summary of the screening and diagnostic processes.</p>","PeriodicalId":16077,"journal":{"name":"Journal of Human Genetics","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144540503","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Pseudoexon activating by a deep intronic variant and phenotype variation in a Chinese family with dystrophinopathy","authors":"Xingyu Xia,&nbsp;Kexin Jiao,&nbsp;Chaoping Hu,&nbsp;Nachuan Cheng,&nbsp;Mingshi Gao,&nbsp;Shiyi Xiong,&nbsp;Ningning Wang,&nbsp;Bochen Zhu,&nbsp;Meining Diao,&nbsp;Dongyue Yue,&nbsp;Jianying Xi,&nbsp;Chongbo Zhao,&nbsp;Chengwen Chen,&nbsp;Wenhua Zhu","doi":"10.1038/s10038-025-01361-x","DOIUrl":"10.1038/s10038-025-01361-x","url":null,"abstract":"Aberrant inclusion of pseudoexons (PE) in mature mRNA is a rare splicing defect contributing to Duchenne muscular dystrophy (DMD) pathogenesis. In this study, we described two affected males from a Chinese family who presented with progressive muscle weakness, elevated creatine kinase (CK) levels, and dystrophic changes on muscle pathology. Whole-genome sequencing followed by linkage-based filtering identified a shared deep intronic variant in intron 47 of DMD gene (c.6913-4037T&gt;G), which activated a cryptic splice site and resulted in the inclusion of a 72 bp PE between exons 47 and 48. Patient induced pluripotent stem cells (iPSCs)-derived myotubes from the patient confirmed the presence of this PE, with a significant reduction in dystrophin expression compared to controls. Quantitative PCR revealed that aberrant transcripts comprised ~89% of total DMD transcripts in myotubes and ~97% in muscle, correlating with near-complete loss of dystrophin. Functional assays further showed impaired myotube fusion and altered calcium signaling. This study underscores the diagnostic complexity of intronic DMD variants and provides evidence supporting the pathogenicity of c.6913-4037T&gt;G.","PeriodicalId":16077,"journal":{"name":"Journal of Human Genetics","volume":"70 9","pages":"483-488"},"PeriodicalIF":2.5,"publicationDate":"2025-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144528290","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Review of 40 genes causing congenital myasthenic syndromes.","authors":"Kinji Ohno, Mikako Ito, Bisei Ohkawara","doi":"10.1038/s10038-025-01355-9","DOIUrl":"https://doi.org/10.1038/s10038-025-01355-9","url":null,"abstract":"<p><p>Congenital myasthenic syndromes (CMS) are a heterogeneous group of disorders characterized by compromised neuromuscular signal transmission due to pathogenic germline variants in genes expressed at the neuromuscular junction (NMJ). A total of 40 genes have been reported in CMS (AGRN, ALG14, ALG2, CHAT, CHD8, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, COL13A1, COLQ, DES, DOK7, DPAGT1, GFPT1, GMPPB, LAMA5, LAMB2, LRP4, MACF1, MUSK, MYO9A, PLEC, PREPL, PTPN11, PURA, RAPSN, RPH3A, SCN4A, SLC18A3, SLC25A1, SLC5A7, SNAP25, SYT2, TEFM, TOR1AIP1, UNC13A, UNC50 and VAMP1). The 40 genes are putatively classified into 13 subtypes by pathomechanical, clinical, and therapeutic features. A unique feature shared by recently identified genes is that CMS is concomitantly recognized in other mostly severer diseases. For example, four recently identified genes exhibit the following phenotypes: PURA-CMS, developmental delay; TEFM-CMS, mitochondrial disease; PTPN11-CMS, Noonan syndrome/Leopard syndrome; and DES-CMS, desmin myopathy. Conversely, these diseases are not always associated with CMS, although genetic and/or environmental factors that determine the involvement of the NMJ remain to be identified. In this review, particular emphasis will be placed on five recently identified genes (MACF1, TEFM, PTPN11, DES and UNC50).</p>","PeriodicalId":16077,"journal":{"name":"Journal of Human Genetics","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-06-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144325958","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Microcephaly-related global developmental delay caused by a pathogenic METTL5 splicing mutation in a Chinese family","authors":"Xiaoyan Zhou,&nbsp;Congcong Teng,&nbsp;Wenjing Zhao,&nbsp;Wen Yang,&nbsp;Yuecheng Yang,&nbsp;Qing Chen,&nbsp;Ming He,&nbsp;Jie Zhang","doi":"10.1038/s10038-025-01354-w","DOIUrl":"10.1038/s10038-025-01354-w","url":null,"abstract":"Microcephaly-related global developmental delay (GDD) and intellectual disability (ID) are characterized by a broad spectrum of neurodevelopmental impairments and encompass a multitude of causal factors. METTL5, a critical component involved in 18S rRNA methylation, has garnered considerable attention owing to its pivotal role in the pathogenesis of GDD and ID associated with microcephaly. A comprehensive physical examination and developmental assessment were performed for a 2-year-old girl presenting with symptoms of GDD and primary microcephaly. Whole-exome sequencing (WES) was performed to identify the pathogenic variant, and Sanger sequencing confirmed the mutation. To further investigate the pathogenicity of the mutation, minigene splicing assays, in vivo RT-PCR and bioinformatics analysis were employed. The WES identified a METTL5 homozygous intron mutation (NM_014168.4: c.224+5 G &gt; A) in the proband. Sanger sequencing further validated the mutation in the family. Minigene assays and in vivo RT-PCR assays demonstrated exon 2 skipping, resulting in a 115-bp deletion in the mutated sequence. Bioinformatics analysis confirmed the pathogenicity of the mutation. For the first time, this study reported that a homozygous mutation (c.224+5 G &gt; A) in the METTL5 gene led to microcephaly-related GDD in a Chinese family. Meantime, the report has validated the pathogenicity of intronic mutations and expanded the mutational spectrum of the METTL5 gene. Thus, this study aids our understanding of the role of METTL5 in GDD and provides a theoretical foundation for the prevention of this disease.","PeriodicalId":16077,"journal":{"name":"Journal of Human Genetics","volume":"70 9","pages":"475-482"},"PeriodicalIF":2.5,"publicationDate":"2025-06-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144275106","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Assessment of different promoters in lentiviral vectors for expression of the N-acetyl-galactosamine-6-sulfate sulfatase gene","authors":"Betul Celik,&nbsp;Andrés Felipe Leal,&nbsp;Shaukat Khan,&nbsp;Shunji Tomatsu","doi":"10.1038/s10038-025-01353-x","DOIUrl":"10.1038/s10038-025-01353-x","url":null,"abstract":"Mucopolysaccharidosis IVA (MPS IVA) is caused by pathogenic variants in the GALNS gene encoding N-acetylgalactosamine-6-sulfate sulfatase (GALNS) enzyme, leading to glycosaminoglycan (GAG) accumulation in multiple tissues, resulting in progressive skeletal dysplasia and poor quality of life. There is currently no effective treatment for this skeletal disease. This study proposes a novel lentiviral vector (LV)-based gene therapy that produces and secretes the active GALNS enzyme at supraphysiologic levels within the cells. LVs carrying the native GALNS encoding sequence (cDNA) were made under three different promoters: CBh, COL2A1, and CD11b. Moreover, we designed LVs carrying the native GALNS cDNA tagged with D8 octapeptide under the CD11b promoter and a human codon-optimized GALNS cDNA under the CBh promoter, respectively. Transduced HEK293 cells, HepG2 cells, and MPS IVA fibroblasts and chondrocytes were cultured for 8 and 30 days, and the media were collected every three days. The enzyme activity, GAG levels, and vector copy numbers (VCNs) in these cells and media were analyzed. LV with the COL2A1 promoter produced the highest enzyme activity in HEK293, HepG2, MPS IVA fibroblasts, and chondrocytes, followed by LV with the CBh promoter. VCNs were higher in MPS IVA fibroblasts treated with LV-CBh-hGALNS and in HepG2 cells treated with LV-CD11b-hGALNS than in HEK293 cells. Accumulated GAGs were normalized to wild-type levels by the LV gene therapy, especially with CBh and COL2A1 promoters. These findings, if further validated, could significantly impact the treatment of MPS IVA, offering a more effective and feasible treatment option.","PeriodicalId":16077,"journal":{"name":"Journal of Human Genetics","volume":"70 9","pages":"463-473"},"PeriodicalIF":2.5,"publicationDate":"2025-06-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144266428","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The prevalence of laterality defects in patients with congenital heart disease","authors":"Xiao-hui Xie,&nbsp;Heng Gu,&nbsp;Zhuang-zhuang Yuan,&nbsp;Jun-lin Yang,&nbsp;Ke-le Qin,&nbsp;Jin-lan Chen,&nbsp;Wei-zhi Zhang,&nbsp;Li Xie,&nbsp;Yi-feng Yang,&nbsp;Zhi-ping Tan","doi":"10.1038/s10038-025-01351-z","DOIUrl":"10.1038/s10038-025-01351-z","url":null,"abstract":"Congenital heart disease (CHD) affects approximately 1% of liveborn infants. Among primary ciliary dyskinesia (PCD) cases, about 50% present with situs inversus totalis, and 6.3% have heterotaxy with CHD. The incidence of CHD is significantly higher in heterotaxy patients compared to the general population (57% vs. 1%). However, comprehensive studies on CHD related to laterality defects are still limited. In this study, we retrospectively analyzed 18,781 CHD patients to determine the prevalence of laterality defects. To evaluate the association between specific complex CHD phenotypes and laterality defects, we utilized a binary logistic regression model. Additionally, we performed whole-exome sequencing (WES) on 121 CHD patients with laterality defects. The results showed that 1.1% of CHD patients had laterality defects (206/18,781), with 0.4% presenting as situs inversus totalis and 0.7% as situs ambiguus. The prevalence of laterality defects was higher in complex CHD cases (5.4%) compared to simple CHD (0.4%). Notably, single atrium with single ventricle (SA+SV) was strongly associated with laterality defects (OR = 48.23, p &lt; 0.001). Among the 121 CHD patients with situs abnormalities, WES identified pathogenic gene variants in 13.2%, with 9.1% harboring known pathogenic genes (ZIC3, NODAL, NKX2-5, GDF1, MMP21, PKD1L1, CCDC151, DNAAF4, LRRC56) and 4.1% exhibiting variants in candidate genes (FMNL3, C1ORF127, CFAP157, C10ORF107, MYO1D). This study revealed both established and novel gene candidates, contributing to our understanding of the genetic basis of laterality defects in CHD.","PeriodicalId":16077,"journal":{"name":"Journal of Human Genetics","volume":"70 9","pages":"453-461"},"PeriodicalIF":2.5,"publicationDate":"2025-06-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144225616","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}