Utility of whole‐exome sequencing for patients with multiple congenital anomalies with or without intellectual disability/developmental delay in East Asia population

BACKGROUND: Congenital anomalies (CAs) with or without intellectual disability (ID)/developmental delay (DD) comprise a heterogeneous spectrum of diseases that affect approximately 3% of live births worldwide. Recently, whole‐exome sequencing (WES) demonstrated the highly heterogeneous genetic cause...

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Detalles Bibliográficos
Autores principales: Hsu, Rai‐Hseng, Lee, Chen‐Hao, Chien, Yin‐Hsiu, Lin, Shuan‐Pei, Hung, Miao‐Zi, Chen, Nai‐Chi, Lin, Yi‐Lin, Hwu, Wuh‐Liang, Lee, Ni‐Chung
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10364928/
https://www.ncbi.nlm.nih.gov/pubmed/36849876
http://dx.doi.org/10.1002/mgg3.2160

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