Syndromic diarrhea/Tricho-hepato-enteric syndrome

Syndromic diarrhea/Tricho-hepato-enteric syndrome

<p>Abstract</p> <p>Syndromic diarrhea/Tricho-hepato-enteric syndrome (SD/THE) is a rare and severe bowel disorder caused by mutation in <it>SKIV2L</it> or in <it>TTC37</it>, 2 genes encoding subunits of the putative human SKI complex. The estimated prevalenc...

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Bibliographic Details
Main Authors: Fabre Alexandre, Martinez-Vinson Christine, Goulet Olivier, Badens Catherine
Format: Article
Language:English
Published: BMC 2013-01-01
Series:Orphanet Journal of Rare Diseases
Subjects:
SKI COMPLEX
<it>SKIV2L</it>
<it>TTC37</it>
WDR61
SKI3
SKI2
SKI8
Intractable diarrhea
Syndromic diarrhea
Tricho-hepato-enteric syndrome
Woolly hair
Online Access:http://www.ojrd.com/content/8/1/5

Internet

http://www.ojrd.com/content/8/1/5

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