Hyperventilation-athetosis in ASXL3 deficiency (Bainbridge-Ropers) syndrome
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DOI: 10.1212/nxg.0000000000000189
Abstract: The protein product of the Drosophila additional sex combs-like (Asx) gene was shown to be a regulator, both a suppressor and an activator, of Hox developmental genes. Mammals, including humans, possess 3 Asx orthologs: 2… read more here.
Keywords: bainbridge ropers; athetosis asxl3; deficiency bainbridge; ropers syndrome ... See more keywords