Molecular spectrum, family screening and genetic counselling of Spinocerebellar Ataxia (SCA) cases in an Indian scenario.
Sign Up to like & getrecommendations! Published in 2021 at "Journal of neurogenetics"
DOI: 10.1080/01677063.2021.1940172
Abstract: Spinocerebellar Ataxia (SCA) is a heterogeneous adult-onset disorder with an autosomal dominant inheritance pattern mainly caused by triplet repeat expansions. Clinical diagnosis of SCA is based on phenotypic features followed by confirmation through molecular diagnosis.… read more here.
Keywords: spinocerebellar ataxia; sca; family screening; family ... See more keywords