mental retardation, X-linked, syndromic, Turner type

mental retardation, X-linked, syndromic, Turner type

A clinically variable form (OMIM:300706) of mental retardation typically accompanied by macrocephaly and joint contractures.
 
Molecular pathology
Defects in HUWE1, which encodes E3 ubiquitin-protein ligase (which mediates ubiquitination and subsequent proteasomal degradation of target proteins) cause MRXST.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.
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