46,XX sex reversal type 3
46,XX sex reversal type 3
A rare condition (OMIM:300833) characterised by mental retardation, isolated growth hormone deficiency and infantile behaviour.
Molecular pathology
Defects of SOX3, which encodes a transcription factor that regulates embryonic development and determines cell fate, cause 46,XX sex reversal type 3.Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.
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