Cerebellar ataxia with normal intellect associated with a homozygous truncating variant in CA8
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DOI: 10.1111/cge.13666
Abstract: Biallelic pathogenic variants in CA8 cause cerebellar ataxia, mental retardation and dysequilibrium syndrome 3 (CAMRQ3), a rare form of hereditary ataxia characterised by cerebellar hypoplasia/atrophy, variable intellectual disability and often quadrupedal gait. The few cases… read more here.
Keywords: cerebellar ataxia; variant ca8; truncating variant; ca8 ... See more keywords