Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy asso...
Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population
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Author / Creator
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 and Cantagrel, Vincent
Publisher
BioMed Central
Journal title
Language
English
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Publisher
BioMed Central
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Contents
AbstractBackgroundCerebellar 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 hel...
Alternative Titles
Full title
Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population
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Record Identifier
TN_cdi_hal_primary_oai_HAL_inserm_01322562v1
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_hal_primary_oai_HAL_inserm_01322562v1
Other Identifiers
ISSN
1750-1172
E-ISSN
1750-1172
DOI
10.1186/s13023-016-0436-9
