Clinical and Molecular Spectrum of Autosomal Recessive CA8‐Related Cerebellar Ataxia
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DOI: 10.1002/mds.29754
Abstract: Based on a limited number of reported families, biallelic CA8 variants have currently been associated with a recessive neurological disorder named, cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 (CAMRQ‐3). read more here.
Keywords: ataxia; spectrum autosomal; clinical molecular; autosomal recessive ... See more keywords