A new frameshift mutation in L1CAM producing X‐linked hydrocephalus

BACKGROUND: X‐linked hydrocephalus (XLH), characterized by mental retardation and bilateral adducted thumbs, often come out to be a genetic disorder of L1CAM. It codes the protein L1 cell adhesion molecule (L1CAM), playing a crucial role in the development of the nervous system. The objective of the...

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Detalles Bibliográficos
Autores principales: Kong, Weiqi, Wang, Xueyan, Zhao, Jing, Kang, Min, Xi, Na, Li, Shengmei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6978236/
https://www.ncbi.nlm.nih.gov/pubmed/31756056
http://dx.doi.org/10.1002/mgg3.1031

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6978236/
https://www.ncbi.nlm.nih.gov/pubmed/31756056
http://dx.doi.org/10.1002/mgg3.1031

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