Article
Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population.
Orphanet journal of rare diseases - 4 May 2016
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
Abstract excerpt
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 non-specific neuroimaging results that can help prioritize further investigation but don't suggest a specific...
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