Further Delineation of the Clinical Phenotype of Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome Type 4
[摘要]
[发布日期] 2018-02-26 [发布机构]
[效力级别] [学科分类]
[关键词] CAMRQ4;ataxia;mental retardation;intellectual disability;disequilibrium syndrome;ATP8A2;WES;encephalopathy;hypotonia;chorea;choreoathetoid movements;optic atrophy [时效性]
