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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...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Wolters Kluwer
2015
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| Materias: | |
| 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 |