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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Detalhes bibliográficos
Publicado no:Orphanet J Rare Dis
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2016
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Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4855324/
https://ncbi.nlm.nih.gov/pubmed/27146152
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-016-0436-9
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