Article
Exclusion of EGFR, HRAS, DSP, JUP, CTNNB1, PLEC1, and EPPK1 as functional candidate genes in 7 families with syndromic diarrhoea.
Journal of pediatric gastroenterology and nutrition - 1 Apr 2009
Fabre Alexandre, Roquelaure Bertrand, Lacoste Caroline, André Nicolas, Sarles Jacques, Breton Anne, Martinez-Vinson Christine, Cezard Jean-Pierre, Colomb Virginie, Goulet Olivier, Levy Nicolas, Badens Catherine
Abstract excerpt
Syndromic diarrhoea (SD) is a rare disease associating intractable diarrhoea and hair abnormalities. In an attempt to identify the gene causative for SD, we studied several functional candidate genes, based on their implication in overlapping phenotypes in mice (EGFR) or in humans (HRAS, JUP, DSP EPPK1, PLEC1, and CTNNB1) in 8 patients affected by SD. Except for EGFR and HRAS, all selected genes encode for cell...
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