Wilson-Turner syndrome

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Wilson-Turner syndrome2016-11-29T19:33:43+00:00

Wilson-Turner syndrome

GENETICS

An über rare–14-cases in the world literature, all in one cohort–X-linked condition (OMIM:309585) condition characterised by obesity, gynaecomastia, speech difficulties, tapering fingers, small feet and mental retardation

Molecular pathology Defects of HDAC8, which encodes a histone deacetylase that plays a key role in transcriptional regulation, cell cycle progression and developmental events, cause Wilson-Turner X-linked mental retardation syndrome.

Synonyms Mental retardation—X-linked—syndrome type 6, mental retardation—X-lined—with gynaecomastia and obesity, MRXS6, Wilson-Turner X-linked mental retardation syndrome, WTS 

References http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3041

http://omim.org/entry/309585

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