Cerebellar ataxia, brain abnormalities, and cardiac conduction defects
Definition:
Cerebellar ataxia, brain abnormalities, and cardiac conduction defects (CABAC) is a rare autosomal recessive disorder. Patients with biallelic variants in EXOSC5 have been reported. EXOSC5 encodes a structural subunit of the RNA exosome.
Biomedical Dictionary
The Biomedical Dictionary is a comprehensive and professional collection of biological academic terms and subject datas. All explanations are supported by authoritative books or high impact factor literatures, and you can acquire accurate explanations of the biomedical terms you want to know.
Molarity Calculator
Dilution Calculator
