A missense variant in ITPR1 provides evidence for autosomal recessive SCA29 with asymptomatic cerebellar hypoplasia in carriers
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DOI: 10.1038/ejhg.2017.54
Abstract: Spinocerebellar ataxias (SCA) comprise a heterogeneous group of inherited neurological disorders characterized by a range of symptoms from both cerebellar and extra cerebellar structures. We investigated the cause of autosomal recessive, congenital SCA in six… read more here.
Keywords: sca29; autosomal recessive; missense variant; cerebellar hypoplasia ... See more keywords