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

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 hepatobiliary ducta...

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Detalles Bibliográficos
Autores principales: Peng, Meilian, Han, Shuai, Sun, Juan, He, Xiaodong, Lv, Yaer, Yang, Liwei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9034663/
https://www.ncbi.nlm.nih.gov/pubmed/35352487
http://dx.doi.org/10.1002/mgg3.1935

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9034663/
https://www.ncbi.nlm.nih.gov/pubmed/35352487
http://dx.doi.org/10.1002/mgg3.1935

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