Mutations in the IRBIT domain of ITPR1 are a frequent cause of autosomal dominant nonprogressive congenital ataxia
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DOI: 10.1111/cge.12783
Abstract: Congenital ataxias are nonprogressive neurological disorders characterized by neonatal hypotonia, developmental delay and ataxia, variably associated with intellectual disability and other neurological or extraneurological features. We performed trio‐based whole‐exome sequencing of 12 families with congenital… read more here.
Keywords: congenital ataxia; ataxia; irbit domain; domain itpr1 ... See more keywords