Prenatal whole exome sequencing identified two rare compound heterozygous variants in EVC2 causing Ellis‐van Creveld syndrome

BACKGROUND: Pathogenic mutations in EVC or EVC2 gene can lead to Ellis‐van Creveld (EvC) syndrome, which is a rare autosomal recessive skeletal dysplasia disorder. This study aimed to determine pathogenic gene variations associated with EvC syndrome in fetuses showing ultrasound anomalies. METHODS:...

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Detalles Bibliográficos
Autores principales: Zhuang, Jianlong, Liu, Shufen, Wang, Junyu, Chen, Yu'e, Zhang, Hegan, Jiang, Yuying, Wang, Gaoxiong, Chen, Chunnuan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10568384/
https://www.ncbi.nlm.nih.gov/pubmed/37485807
http://dx.doi.org/10.1002/mgg3.2242

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10568384/
https://www.ncbi.nlm.nih.gov/pubmed/37485807
http://dx.doi.org/10.1002/mgg3.2242

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