Article
Novel mutations in TTC37 associated with tricho-hepato-enteric syndrome.
Human mutation - 1 Mar 2011
Fabre Alexandre, Martinez-Vinson Christine, Roquelaure Bertrand, Missirian Chantal, André Nicolas, Breton Anne, Lachaux Alain, Odul Egritas, Colomb Virginie, Lemale Julie, Cézard Jean-Pierre, Goulet Olivier, Sarles Jacques, Levy Nicolas, Badens Catherine
Abstract excerpt
The Tricho-Hepato-Enteric (THE) syndrome is an autosomal recessive condition marked by early and intractable diarrhea, hair abnormalities, and immune defects. Mutations in TTC37, which encodes the putative protein Thespin, have recently been associated with THE syndrome. In this article, we extend the pattern of TTC37 mutations by the description of 11 novel mutations in 9 patients with a typical THE syndrome....
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