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A novel splicing variation in L1CAM is responsible for recurrent fetal hydrocephalus

BACKGROUND: The L1 cell adhesion molecule (L1CAM, OMIM 308840) gene is primarily expressed in the nervous system and encodes the L1 adhesion molecule protein. Variations in L1CAM cause a wide spectrum of X‐linked neurological disorders summarized as the L1 syndrome. METHODS: We report a 29‐year‐old...

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Detalles Bibliográficos
Autores principales:	He, Tiantian, Yao, Qiang, Xu, Bocheng, Yang, Mei, Jiang, Jieni, Xiang, Qingqing, Xiao, Like, Liu, Shanling, Wang, He, Zhang, Xuemei
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2023
Materias:	Clinical Reports
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10655515/ https://www.ncbi.nlm.nih.gov/pubmed/37489051 http://dx.doi.org/10.1002/mgg3.2253

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