Prenatal diagnosis of a nonsense mutation in the L1CAM gene resulting in congenital hydrocephalus: A case report and literature review

Congenital hydrocephalus is frequently caused by mutations in the L1 cell adhesion molecule (L1CAM) gene. The purpose of the present study was to identify possible causes of fetal hydrocephalus in a Chinese family. The samples from the parents and the hydrocephalic fetus were collected. Whole-exome...

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Detalles Bibliográficos
Autores principales: Wang, Rongyue, Chen, Hua, Wang, Xiaona, Huang, Shiyuan, Xie, Ailan, Wu, Xinmei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2021
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8524657/
https://www.ncbi.nlm.nih.gov/pubmed/34676009
http://dx.doi.org/10.3892/etm.2021.10807

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8524657/
https://www.ncbi.nlm.nih.gov/pubmed/34676009
http://dx.doi.org/10.3892/etm.2021.10807

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