Clinical Genetics最新文献_第9页

A Novel Skeletal Dysplasia With Premaxilla Overgrowth, Gingival Hyperplasia, and Dental Hypercementosis. 一种新型的骨骼发育不良伴上颌骨增生、牙龈增生和牙充血。

IF 2.9 3区医学

Clinical Genetics Pub Date : 2025-06-02 DOI: 10.1111/cge.14779

Paulo Marcio Yamaguti, Shélida Vasconcelos Braz, Audrey Asselin, André Ferreira Leite, Caroline Lourenço de Lima, Daniel Rocha de Carvalho, Heliana Dantas Mestrinho, Paulo Tadeu Figueiredo, Guilherme Santos, Nathalia de Aguiar Montenegro, Nunthawan Nowwarote, Benjamin Philippe Jacques Fournier, Muriel de La Dure-Molla, Ariane Berdal, Luiz Claudio Gonçalves de Castro, Neysa Aparecida Tinoco Regattieri, Juliana Forte Mazzeu, Juliane Isaac, Ana Carolina Acevedo

{"title":"A Novel Skeletal Dysplasia With Premaxilla Overgrowth, Gingival Hyperplasia, and Dental Hypercementosis.","authors":"Paulo Marcio Yamaguti, Shélida Vasconcelos Braz, Audrey Asselin, André Ferreira Leite, Caroline Lourenço de Lima, Daniel Rocha de Carvalho, Heliana Dantas Mestrinho, Paulo Tadeu Figueiredo, Guilherme Santos, Nathalia de Aguiar Montenegro, Nunthawan Nowwarote, Benjamin Philippe Jacques Fournier, Muriel de La Dure-Molla, Ariane Berdal, Luiz Claudio Gonçalves de Castro, Neysa Aparecida Tinoco Regattieri, Juliana Forte Mazzeu, Juliane Isaac, Ana Carolina Acevedo","doi":"10.1111/cge.14779","DOIUrl":"https://doi.org/10.1111/cge.14779","url":null,"abstract":"This study reports a skeletal disorder marked by facial dysmorphism and a distinct oro-dental phenotype including premaxillary and gingival overgrowth and hypercementosis. Whole-exome sequencing identified a homozygous missense variant in ENPP5 (c.173G>T; p.Gly58Val), affecting a conserved glycine residue predicted to be within a putative active binding site of the ENPP5 protein. In mice, RNA-seq and immunofluorescence confirmed Enpp5 expression in functional osteoblasts of the maxilla and mandible, periodontal ligament, odontoblasts, and ameloblasts. RT-qPCR confirmed region-specific expression, with higher Enpp5 expression in premaxillary-maxillary bones compared to the tibia, suggesting site-dependent functional roles. This report links, for the first time, a biallelic ENPP5 variant to a novel syndrome involving premaxillary development, bone and cementum growth, highlighting the need for further functional and clinical investigation.","PeriodicalId":10354,"journal":{"name":"Clinical Genetics","volume":" ","pages":""},"PeriodicalIF":2.9,"publicationDate":"2025-06-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144207839","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}

引用次数: 0

Mucopolysaccharidosis Type IIIB With Pancytopenia: A Case Report and Hematological Correlations in Mice. 粘多糖病IIIB型伴全血细胞减少：一例报告及小鼠血液学相关性。

IF 2.9 3区医学

Clinical Genetics Pub Date : 2025-05-29 DOI: 10.1111/cge.14773

Éliane Beauregard-Lacroix, Patricia Dubot, Alexey V Pshezhetsky, Philippe M Campeau

引用次数: 0

Novel CYFIP2 Frameshift Variant Linked to Dyskinetic Crises: Functional Studies Show Impaired Cell Motility. 新的CYFIP2移码变体与运动障碍危机相关：功能研究显示细胞运动受损。

IF 2.9 3区医学

Clinical Genetics Pub Date : 2025-05-27 DOI: 10.1111/cge.14774

María Eugenia Amato, Marcos Frías, Alfredo Cerisola, Mònica Roldán, Juan Darío Ortigoza-Escobar

{"title":"Novel CYFIP2 Frameshift Variant Linked to Dyskinetic Crises: Functional Studies Show Impaired Cell Motility.","authors":"María Eugenia Amato, Marcos Frías, Alfredo Cerisola, Mònica Roldán, Juan Darío Ortigoza-Escobar","doi":"10.1111/cge.14774","DOIUrl":"https://doi.org/10.1111/cge.14774","url":null,"abstract":"CYFIP2, essential for actin cytoskeleton regulation, is implicated in early-onset developmental and epileptic encephalopathy (DEE) with neurodevelopmental impairments and variable movement disorders, including occasional dyskinetic crises. We report a novel CYFIP2 frameshift variant (c.281_282insA/p.(Gln95ProfsTer15)) causing dyskinetic crises and to assess its functional impact. Clinical and genetic evaluations were conducted, alongside functional studies using patient-derived fibroblasts. Actin dynamics and cell motility were analyzed with confocal microscopy and live-cell imaging. The patient exhibited DEE, delayed neurodevelopment, refractory seizures, and movement disorders, including dystonia, choreoathetosis, and dyskinetic crises. Functional studies revealed disrupted actin organization, impaired cell motility, and altered protrusive structures. This study confirms CYFIP2 as a cause of dyskinetic crises and underscores its role in cellular dynamics, broadening the phenotypic spectrum of CYFIP2-related disorders. Early genetic diagnosis and further research are essential to developing targeted therapeutic strategies.","PeriodicalId":10354,"journal":{"name":"Clinical Genetics","volume":" ","pages":""},"PeriodicalIF":2.9,"publicationDate":"2025-05-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144157204","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}

引用次数: 0

ACTC1 Variants Result in Isolated and Syndromic Cardiac Phenotypes. ACTC1变异导致孤立的和综合征的心脏表型。

IF 2.3 3区医学

Clinical Genetics Pub Date : 2025-05-27 DOI: 10.1111/cge.14775

Yuri A Zarate, Lina Abdelmoti, Seungjae Oh, Andreya White, Cassandra Starks, Margaret G Au, Jing Chen, Nicole K Weaver, Konstantin V Korotkov, Emilia Galperin

{"title":"ACTC1 Variants Result in Isolated and Syndromic Cardiac Phenotypes.","authors":"Yuri A Zarate, Lina Abdelmoti, Seungjae Oh, Andreya White, Cassandra Starks, Margaret G Au, Jing Chen, Nicole K Weaver, Konstantin V Korotkov, Emilia Galperin","doi":"10.1111/cge.14775","DOIUrl":"10.1111/cge.14775","url":null,"abstract":"Individuals carrying pathogenic variants in ACTC1 present with several cardiac phenotypes, including hypertrophic cardiomyopathy, dilated cardiomyopathy, and left ventricular noncompaction cardiomyopathy. In the current work, we expand the clinical and genetic spectrum of phenotypes caused by ACTC1 genetic variants by describing two individuals with heterozygous variants involving residues Gly57 or Glu101. These individuals presented with facial dysmorphism, short stature, and skeletal anomalies in addition to hypertrophic and left ventricular noncompaction cardiomyopathies. Protein structure analysis showed these variants alter the ATP binding or putative protein-protein interactions, while in vivo zebrafish analysis validated the pathogenicity of these ACTC1 variants and their impact on the development of the cranial tissues. Combined with recent reports of other individuals with ACTC1 variants and extracardiac phenotypes, this study provides further evidence of the extensive molecular and clinical diversity related to ACTC1.","PeriodicalId":10354,"journal":{"name":"Clinical Genetics","volume":" ","pages":""},"PeriodicalIF":2.3,"publicationDate":"2025-05-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12354105/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144149602","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}

引用次数: 0

RNA Analysis Enables Resolution and Reclassification of Reportedly Benign Synonymous Variants. RNA分析使报告良性同义变异的决议和重新分类。

IF 2.9 3区医学

Clinical Genetics Pub Date : 2025-05-22 DOI: 10.1111/cge.14772

Adina Fuchs, Inbar Kobal, Dov Popper, Shay Porat, Joshua I Rosenbloom, Mordechai Slae, Shira Yanovsky Dagan, Vardiella Meiner, Vered Molho-Pessach, Hagit Daum, Tamar Harel

{"title":"RNA Analysis Enables Resolution and Reclassification of Reportedly Benign Synonymous Variants.","authors":"Adina Fuchs, Inbar Kobal, Dov Popper, Shay Porat, Joshua I Rosenbloom, Mordechai Slae, Shira Yanovsky Dagan, Vardiella Meiner, Vered Molho-Pessach, Hagit Daum, Tamar Harel","doi":"10.1111/cge.14772","DOIUrl":"https://doi.org/10.1111/cge.14772","url":null,"abstract":"Synonymous variants can significantly impact protein levels and function, particularly through alterations in RNA processing. Consequently, variant classification must consider the broader impact on RNA splicing. We present three cases where synonymous variants were detected through exome sequencing. The variants in LARS1 and POLE were located at the last nucleotide of the exon (i.e., splice donor site), while the COL2A1 variant was located three nucleotides downstream of the splice acceptor site. Two variants were previously classified in ClinVar as \"likely benign.\" Segregation analysis confirmed segregation of the variants with the phenotype in available family members, and RNA studies revealed exon skipping in conserved regions of the protein, leading to reclassification of these variants as \"likely pathogenic\" and ultimately improving clinical management. These findings highlight the importance of incorporating RNA-based testing to directly evaluate splicing effects and demonstrate the critical role of RNA analysis in the accurate interpretation of variants and their implications for diagnosis and treatment.","PeriodicalId":10354,"journal":{"name":"Clinical Genetics","volume":" ","pages":""},"PeriodicalIF":2.9,"publicationDate":"2025-05-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144119084","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}

引用次数: 0

Clinical and Neurodevelopmental Characteristics of Paralogous Gain-of-Function Variants at GRIA2 p.Gly792 and GRIA3 p.Gly803. gra2 p.Gly792和gra3 p.Gly803旁系功能获得变异的临床和神经发育特征

IF 2.9 3区医学

Clinical Genetics Pub Date : 2025-05-20 DOI: 10.1111/cge.14770

Emilie Sjøstrøm, Dorota Studniarczyk, Xinyao Dou, Rebekka S Dahl, Vincent Cruz, Heng Wang, Sandra Mercier, Wallid Deb, Thomas Besnard, Jennifer Friedman, Miriam Essid, Sana Karoui, Lamia Ben Jemaa, Thouraya Benyounes, Gaetan Lesca, Davide Tonduti, Maria Iascone, Simona Orcesi, Melanie Fradin, Christèle Dubourg, Silvia Napuri, Stuart G Cull-Candy, Ian D Coombs, Mark Farrant, Allan Bayat

{"title":"Clinical and Neurodevelopmental Characteristics of Paralogous Gain-of-Function Variants at GRIA2 p.Gly792 and GRIA3 p.Gly803.","authors":"Emilie Sjøstrøm, Dorota Studniarczyk, Xinyao Dou, Rebekka S Dahl, Vincent Cruz, Heng Wang, Sandra Mercier, Wallid Deb, Thomas Besnard, Jennifer Friedman, Miriam Essid, Sana Karoui, Lamia Ben Jemaa, Thouraya Benyounes, Gaetan Lesca, Davide Tonduti, Maria Iascone, Simona Orcesi, Melanie Fradin, Christèle Dubourg, Silvia Napuri, Stuart G Cull-Candy, Ian D Coombs, Mark Farrant, Allan Bayat","doi":"10.1111/cge.14770","DOIUrl":"https://doi.org/10.1111/cge.14770","url":null,"abstract":"GRIA-related disorders arise from disease-causing variants in GRIA1, GRIA2, GRIA3, or GRIA4 that encode α-amino-3-hydroxy-5-methyl-4-isoxazole propionic acid (AMPA)-type glutamate receptors (AMPARs). Rare monoallelic GRIA1-4 variants affecting AMPAR function can potentially lead to neurodevelopmental disorders. The impact on AMPAR function may manifest as either gain-of-function (GOF) or loss-of-function (LOF). We recruited nine unrelated patients with either known disease-causing GOF variants in GRIA3 at position p.Gly803 or variants at the paralogous position in GRIA2 (p.Gly792). Specifically, five patients carried a de novo GRIA3 variant (p.Gly803Glu or p.Gly803Val), one carried a maternally inherited GRIA3 variant (p.Gly803Ala) and three carried de novo GRIA2 variants (p.Gly792Arg, p.Gly792Val, or p.Gly792Glu) which we demonstrate are also GOF. Recurrent symptoms included developmental delay affecting both motor skills and language abilities; cognitive impairment; behavioral and psychiatric comorbidities; hypertonia, cerebral palsy, non-epileptic myoclonus, and treatment-resistant epilepsy. We also provide insights into social skills, levels of autonomy, living arrangements, and educational attainment. We compared the clinical features associated with the two paralogous GOF GRIA2 and GRIA3 variants. Our study elucidates the developmental aspects, cognitive abilities, seizure profiles, and behavioral challenges associated with these variants and contributes to advancing our understanding and treatment of patients affected by this rare condition.","PeriodicalId":10354,"journal":{"name":"Clinical Genetics","volume":" ","pages":""},"PeriodicalIF":2.9,"publicationDate":"2025-05-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144101399","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}

引用次数: 0

A Novel TAF1C Missense Variant Causes Neurodevelopmental Regression via Disrupted Nucleolar Localization and Nucleoplasmic Aggregation. 一种新的TAF1C错义变异通过破坏核仁定位和核质聚集导致神经发育退化。

IF 2.9 3区医学

Clinical Genetics Pub Date : 2025-05-15 DOI: 10.1111/cge.14771

S Rehan Ahmad, Natchimuthu Vijayakumar, Nazim Nasir

{"title":"A Novel TAF1C Missense Variant Causes Neurodevelopmental Regression via Disrupted Nucleolar Localization and Nucleoplasmic Aggregation.","authors":"S Rehan Ahmad, Natchimuthu Vijayakumar, Nazim Nasir","doi":"10.1111/cge.14771","DOIUrl":"https://doi.org/10.1111/cge.14771","url":null,"abstract":"TAF1C (TATA box-binding protein-associated factor, RNA polymerase I subunit C) is an essential component of the RNA polymerase I transcription machinery responsible for ribosomal RNA synthesis and nucleolar function. Variants in TAF1C have recently emerged as rare genetic causes of early-onset neurological syndromes characterized by nucleolar stress and impaired ribosome biogenesis, leading to developmental delay and brain atrophy. Here, we report a novel homozygous missense variant (c.1766C>T; p.Ser589Leu) in TAF1C in a 3-year 8-month-old boy who exhibited normal development until age two, followed by generalized seizures and progressive neurodevelopmental regression, spasticity, microcephaly, and cerebellar atrophy. MRI revealed asymmetric diffusion restriction and diffuse cerebellar atrophy. Although the mutant TAF1C transcript and protein were expressed at normal levels in peripheral blood cells, immunofluorescence analysis revealed a loss of nucleolar localization and the formation of abnormal thread-like aggregates within the nucleoplasm. These findings suggest that the p.Ser589Leu variant causes disease through functional mislocalization rather than loss of expression. Our case expands the phenotypic and mechanistic spectrum of TAF1C-related disorders and highlights the importance of proper subnuclear localization for maintaining neuronal function and development.","PeriodicalId":10354,"journal":{"name":"Clinical Genetics","volume":" ","pages":""},"PeriodicalIF":2.9,"publicationDate":"2025-05-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144074965","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}

引用次数: 0

Decoding the Genetic Puzzle of Inherited Retinal Dystrophies: Novel Insights From a Turkish Cohort. 解码遗传性视网膜营养不良症的基因谜题：来自土耳其队列的新见解。

IF 2.9 3区医学

Clinical Genetics Pub Date : 2025-05-15 DOI: 10.1111/cge.14769

Şenol Demir, Esra Arslan Ateş, Orkun Sevik, Bengisu Sözer, Tuğba Köse, Özlem Şahin, Ahmet Arman, Bilgen Bilge Geçkinli

{"title":"Decoding the Genetic Puzzle of Inherited Retinal Dystrophies: Novel Insights From a Turkish Cohort.","authors":"Şenol Demir, Esra Arslan Ateş, Orkun Sevik, Bengisu Sözer, Tuğba Köse, Özlem Şahin, Ahmet Arman, Bilgen Bilge Geçkinli","doi":"10.1111/cge.14769","DOIUrl":"https://doi.org/10.1111/cge.14769","url":null,"abstract":"Inherited retinal dystrophies (IRDs) are genetic disorders characterized by retinal pigment epithelium or photoreceptor degeneration. Advances in molecular diagnostic technologies, particularly next-generation sequencing (NGS), have facilitated the identification of disease-causing variants; however, population-specific genetic data, especially for Turkish cohorts, remain limited. This study aims to investigate the genetic profile of IRD patients in a Turkish cohort and assess the diagnostic utility of NGS-based gene panel testing. A total of 94 patients diagnosed with IRDs were included in the study. Genomic DNA was extracted from the peripheral blood of patients who met the inclusion and exclusion criteria. NGS was performed to analyze 141 genes associated with IRDs, following current clinical guidelines and utilizing up-to-date variant databases. Among the 94 patients, 97 variants were identified in 70 patients (74%). Of these, 58 variants (59.79%) were classified as pathogenic and 39 variants (40.21%) as likely pathogenic. Additionally, 28 variants (28%) were novel and have not been previously reported in the literature. Our findings demonstrate that NGS is a powerful tool for the molecular diagnosis of IRDs and emphasizes the genetic diversity of IRDs in the Turkish population. The identification of novel variants also highlights the need for continued variant curation and population-specific studies to enhance diagnostic accuracy and genetic counseling.","PeriodicalId":10354,"journal":{"name":"Clinical Genetics","volume":" ","pages":""},"PeriodicalIF":2.9,"publicationDate":"2025-05-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144076329","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}

引用次数: 0

The Diverse Genetic Landscape of Hearing Impairment in South African Families. 南非家庭中听力障碍的不同遗传景观。

IF 2.9 3区医学

Clinical Genetics Pub Date : 2025-05-15 DOI: 10.1111/cge.14765

Thashi Bharadwaj, Anushree Acharya, Noluthando Rearabetswe Manyisa, Elvis Twumasi Aboagye, Ramses Peigou Wonkam, Lettilia Xhakaza, Kalinka Popel, Carmen de Kock, Isabelle Schrauwen, Ambroise Wonkam, Suzanne M Leal

{"title":"The Diverse Genetic Landscape of Hearing Impairment in South African Families.","authors":"Thashi Bharadwaj, Anushree Acharya, Noluthando Rearabetswe Manyisa, Elvis Twumasi Aboagye, Ramses Peigou Wonkam, Lettilia Xhakaza, Kalinka Popel, Carmen de Kock, Isabelle Schrauwen, Ambroise Wonkam, Suzanne M Leal","doi":"10.1111/cge.14765","DOIUrl":"https://doi.org/10.1111/cge.14765","url":null,"abstract":"To elucidate the genetic etiology of hearing impairment (HI) in South Africa, 45 nonsyndromic HI (NSHI) and syndromic HI (SHI) families with ≥ 2 affected members were analyzed. Exome and sanger sequencing were used to identify causal genes. For NSHI, 14 of 24 families segregated variants in NSHI genes, that is, CDH23, GJB2, MITF, MYO7A, MYO15A, PCDH15, POU3F4, REST, SLC26A4, TMPRSS3, and WFS1. For the 21 SHI families, 14 have Waardenburg syndrome, two Branchio-Oto-Renal syndromes, and one each with Bartter, Chudley-McCullough, Deafness-Albinism, MYH9-related disorder, and Pendred syndromes. The cause of SHI was determined for 14 families, with EDN3, EDNRB, GPSM2, MITF, MYH9, SLC12A1, and SLC26A4 underlying the syndrome in a single family, EYA1 in two families, and PAX3 in five families. For the NSHI and SHI genes, 52.9% and 35.7% of the variants, respectively, have not been reported in disease etiology. Additionally, two Waardenburg families segregated variants in NSHI genes, BDP1 and MYO6, but these findings need to be validated. This study enhances the understanding of the genetic landscape of HI in South Africa, revealing a high level of locus and allelic heterogeneity. Studying diverse populations provides new insights into HI etiology that, in turn, can improve genetic diagnosis and personalized management.","PeriodicalId":10354,"journal":{"name":"Clinical Genetics","volume":" ","pages":""},"PeriodicalIF":2.9,"publicationDate":"2025-05-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144076364","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}

引用次数: 0

Case Report: Association of Ocular Colobomas With a Novel Missense Variant in CDC42, a Member of the Rho Family of Small GTPases. 病例报告：一种新的CDC42错义变异与眼结肠瘤的关联，CDC42是小GTPases的Rho家族成员。

IF 2.3 3区医学

Clinical Genetics Pub Date : 2025-05-15 DOI: 10.1111/cge.14768

Diana Brightman, Nawaal Shinwari, Aleksey Porollo, Eniolami O Dosunmu, Ehsan Ullah, Bin Guan, Robert B Hufnagel, Brian P Brooks, Delphine Blain, Sabine Fuhrmann, Brittany Simpson, Anne M Slavotinek

引用次数: 0