Evaluation of novel compound variants of CEP290 in prenatally suspected case of Meckel syndrome through whole exome sequencing

Evaluation of novel compound variants of CEP290 in prenatally suspected case of Meckel syndrome through whole exome sequencing

Abstract Background Meckel syndrome (MKS) is a fatal disease characterized by multisystem fibrosis during the prenatal or perinatal period. It has an autosomal recessive genetic pattern and is characterized by meningo occipital encephalocele, polycystic kidney dysplasia, polydactyly, and hepatobilia...

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Bibliographic Details
Main Authors: Meilian Peng, Shuai Han, Juan Sun, Xiaodong He, Yaer Lv, Liwei Yang
Format: Article
Language:English
Published: Wiley 2022-05-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
CEP290
Meckel syndrome
novel mutation
whole exome sequencing
Online Access:https://doi.org/10.1002/mgg3.1935

Internet

https://doi.org/10.1002/mgg3.1935

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