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Article

SKIV2L mutations cause syndromic diarrhea, or trichohepatoenteric syndrome.

American journal of human genetics - 6 Apr 2012

Fabre Alexandre, Charroux Bernard, Martinez-Vinson Christine, Roquelaure Bertrand, Odul Egritas, Sayar Ersin, Smith Hilary, Colomb Virginie, Andre Nicolas, Hugot Jean-Pierre, Goulet Olivier, Lacoste Caroline, Sarles Jacques, Royet Julien, Levy Nicolas, Badens Catherine

Abstract excerpt

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...

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Identifiers

PMID: 22444670
DOI: 10.1016/j.ajhg.2012.02.009
PMCID: PMC3322239

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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SKIV2L mutations cause syndromic diarrhea, or trichohepatoenteric syndrome.PMID 22444670Read ↗

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