Mutation in the sixth immunoglobulin domain of L1CAM is associated with migrational brain anomalies

OBJECTIVE: To describe the phenotype of a patient with classical features of X-linked L1 syndrome associated with novel brain malformations. METHODS: Diagnostic analysis included physical and dysmorphology examinations, MRI of the brain, and exome sequencing of the family trio. RESULTS: We report a...

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Detalles Bibliográficos
Autores principales: Shieh, Christine, Moser, Franklin, Graham, John M., Watiker, Valerie, Pierson, Tyler Mark
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2015
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4811382/
https://www.ncbi.nlm.nih.gov/pubmed/27066571
http://dx.doi.org/10.1212/NXG.0000000000000034

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4811382/
https://www.ncbi.nlm.nih.gov/pubmed/27066571
http://dx.doi.org/10.1212/NXG.0000000000000034

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