trichohepatoenteric syndrome

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trichohepatoenteric syndrome2016-11-28T07:12:37+00:00

trichohepatoenteric syndrome 2

MOLECULAR MEDICINE

A rare hereditary (OMIM:614602) condition characterised by intractable diarrhoea with facial dysmorphia, intrauterine growth retardation, immunodeficiency with reduced immunoglobulins and woolly hair.

Molecular pathology Defects of SKIV2L, which encodes a helicase with ATPase activity, cause trichohepatoenteric syndrome 2.

Synonyms Phenotypic diarrhoea, syndromic diarrhoea, THE syndrome 

References http://www.omim.org/entry/614602

http://www.uniprot.org/uniprot/Q15477

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