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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

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