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Compound variants of FKTN , POMGNT1 , and LAMB1 gene identified by prenatal whole‐exome sequencing in three fetuses with congenital hydrocephalus

Congenital hydrocephalus (CH) is a severe birth defect, and genetics components is an important etiology. Whole‐exome sequencing (WES) has been proven to be a feasible approach for prenatal diagnosis of CH. In this study, we carried out WES on three fetuses with cerebral ventriculomegaly. After bioi...

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Detalles Bibliográficos
Autores principales:	Li, Meng, Fu, Huayu, Li, Jiao, Meng, Dahua, Zhang, Qiang, Fei, Dongmei
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley & Sons Australia, Ltd 2022
Materias:	Case Reports
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9796612/ https://www.ncbi.nlm.nih.gov/pubmed/35843586 http://dx.doi.org/10.1111/jog.15358

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