SKIV2L mutations cause syndromic diarrhea, or trichohepatoenteric syndrome.

  title={SKIV2L mutations cause syndromic diarrhea, or trichohepatoenteric syndrome.},
  author={Alexandre Fabre and Bernard Charroux and Christine Martinez-Vinson and Bertrand Roquelaure and Egritas Odul and Ersin Sayar and Hilary Smith and Virginie Colomb and Nicolas Andr{\'e} and Jean-Pierre Hugot and Olivier Goulet and Caroline Lacoste and Jacques Sarles and Julien Royet and Nicolas L{\'e}vy and C Badens},
  journal={American journal of human genetics},
  volume={90 4},
Syndromic diarrhea (or trichohepatoenteric syndrome) is a rare congenital bowel disorder characterized by intractable diarrhea and woolly hair, and it has recently been associated with mutations in TTC37. Although databases report TTC37 as being the human ortholog of Ski3p, one of the yeast Ski-complex cofactors, this lead was not investigated in initial studies. The Ski complex is a multiprotein complex required for exosome-mediated RNA surveillance, including the regulation of normal mRNA and… CONTINUE READING
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