A Novel Silent Mutation in the L1CAM Gene Causing Fetal Hydrocephalus Detected by Whole-Exome Sequencing

X-linked hydrocephalus (XLH), a genetic disorder, has an incidence of 1/30,000 male births. The great proportion of XLH is ascribed to loss-of-function mutations of L1 cell adhesion molecule gene (L1CAM), but silent mutations in L1CAM with pathogenic potential were rare and were usually ignored espe...

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Detalles Bibliográficos
Autores principales: Sun, Yixi, Li, Yanfeng, Chen, Min, Luo, Yuqin, Qian, Yeqing, Yang, Yanmei, Lu, Hong, Lou, Fenlan, Dong, Minyue
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6749797/
https://www.ncbi.nlm.nih.gov/pubmed/31572438
http://dx.doi.org/10.3389/fgene.2019.00817

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6749797/
https://www.ncbi.nlm.nih.gov/pubmed/31572438
http://dx.doi.org/10.3389/fgene.2019.00817

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