A novel mutation in L1CAM causes a mild form of L1 syndrome: a case report

Clinical geneticists, neurologists, psychiatrists, and other healthcare providers can learn from this case report that patients with a behavioral phenotype that includes a mild learning disability may also require a thorough examination, including brain MRI and whole‐exome sequencing.

Detalles Bibliográficos
Autores principales: Otter, Maarten, Wevers, Marijke, Pisters, Marline, Pfundt, Rolph, Vos, Yvonne, Nievelstein, Rutger Jan, Stumpel, Constance
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5538050/
https://www.ncbi.nlm.nih.gov/pubmed/28781826
http://dx.doi.org/10.1002/ccr3.1038

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5538050/
https://www.ncbi.nlm.nih.gov/pubmed/28781826
http://dx.doi.org/10.1002/ccr3.1038

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