Meacham syndrome

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Meacham syndrome2016-11-27T04:14:07+00:00

Meacham syndrome

MOLECULAR MEDICINE

A rare sporadic multi-malformation syndrome (OMIM:608978) characterised by male pseudohermaphroditism with anatomic abnormalities, comprised of a uterus with double or septate vagina, complex congenital heart and diaphragmatic defects.

Molecular pathology Defects of WTI, which encodes a transcription factor that plays an essential role in the normal development of the urogenital system, cause Meacham syndrome.  

References http://www.uniprot.org/uniprot/P19544

http://www.omim.org/entry/608978

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