%0 Journal Article
%T Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population
%A Arnold Munnich
%A Christine Bole-Feysot
%A C¨¦cile Masson
%A Daniel Medina-Cano
%A Giulia Barcia
%A Hisham Megahed
%A Isabelle Desguerre
%A Karine Siquier-Pernet
%A Laurence Colleaux
%A Marl¨¨ne Rio
%A Micha£¿l Nicouleau
%A M¨¦lanie Parisot
%A Nadia Bahi-Buisson
%A Nathalie Boddaert
%A Patrick Nitschk¨¦
%A Vincent Cantagrel
%J Archive of "Orphanet Journal of Rare Diseases".
%D 2016
%R 10.1186/s13023-016-0436-9
%X 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 molecular diagnosis
%K Cerebellum atrophy
%K Intellectual disability
%K Exome sequencing
%K Molybdenum cofactor deficiency
%K MOCS2
%K KIF1A
%U https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4855324/