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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease cerebellar ataxia
Comorbidity C0002896|sideroblastic anemia
Sentences 2
PubMedID- 26064910 [20] previously identified a missense mutation in the abc7 gene to be the cause of x-linked sideroblastic anemia with cerebellar ataxia.
PubMedID- 24592338 Moreover, a rare inherited x-linked sideroblastic anemia with spinocerebellar ataxia, characterized by anaemia with mitochondrial iron accumulation in the bone marrow erythroblasts, is caused by mutations in abcb7 gene.

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