Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population

BACKGROUND: Cerebellar atrophy and developmental delay are commonly associated features in large numbers of genetic diseases that frequently also include epilepsy. These defects are highly heterogeneous on both the genetic and clinical levels. Patients with these signs also typically present with no...

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Detalles Bibliográficos
Autores principales: Megahed, Hisham, Nicouleau, Michaël, Barcia, Giulia, Medina-Cano, Daniel, Siquier-Pernet, Karine, Bole-Feysot, Christine, Parisot, Mélanie, Masson, Cécile, Nitschké, Patrick, Rio, Marlène, Bahi-Buisson, Nadia, Desguerre, Isabelle, Munnich, Arnold, Boddaert, Nathalie, Colleaux, Laurence, Cantagrel, Vincent
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4855324/
https://www.ncbi.nlm.nih.gov/pubmed/27146152
http://dx.doi.org/10.1186/s13023-016-0436-9

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