46,XX sex reversal 3

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46,XX sex reversal 32016-05-28T02:41:04+00:00

46,XX sex reversal 3

GENETICS

A rare condition (MIM: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 determine cell fate, cause 46,XX sex reversal 3. 

Synonyms Chromosome Xq26 duplication syndrome, chromosome Xq26 deletion syndrome (included)

References http://www.uniprot.org/uniprot/P41225

http://www.omim.org/entry/300833

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