Case Report: Two Novel L1CAM Mutations in Two Unrelated Chinese Families With X-Linked Hydrocephalus

L1 cell adhesion molecule is a type I transmembrane glycoprotein belonging to the immunoglobulin superfamily. Pathogenic mutations of L1CAM can cause L1 syndrome, referred to as a variety of disease spectrums characterized by hydrocephalus. In the present study, we reported two novel variants of L1C...

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Detalles Bibliográficos
Autores principales: Zhou, Hang, Yu, Qiuxia, Li, Yingsi, Fu, Fang, Li, Ru, Chen, Guilan, Wang, Dan, Lu, Yan, Yang, Xin, Li, Dongzhi, Liao, Can
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9099044/
https://www.ncbi.nlm.nih.gov/pubmed/35571029
http://dx.doi.org/10.3389/fgene.2022.810853

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9099044/
https://www.ncbi.nlm.nih.gov/pubmed/35571029
http://dx.doi.org/10.3389/fgene.2022.810853

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