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Article

Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy).

Gastroenterology - 1 Jun 2010

Hartley Jane Louise, Zachos Nicholas C, Dawood Ban, Donowitz Mark, Forman Julia, Pollitt Rodney J, Morgan Neil V, Tee Louise, Gissen Paul, Kahr Walter H A, Knisely Alex S, Watson Steve, Chitayat David, Booth Ian W, Protheroe Sue, Murphy Stephen, de Vries Esther, Kelly Deirdre A, Maher Eamonn R

Abstract excerpt

BACKGROUND & AIMS: Trichohepatoenteric syndrome (THES) is an autosomal-recessive disorder characterized by life-threatening diarrhea in infancy, immunodeficiency, liver disease, trichorrhexis nodosa, facial dysmorphism, hypopigmentation, and cardiac defects. We attempted to characterize the phenotype and elucidate the molecular basis of THES. METHODS: Twelve patients with classic THES from 11 families had...

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Identifiers

PMID: 20176027
DOI: 10.1053/j.gastro.2010.02.010
PMCID: PMC3166659

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Source receipt: pubmed, retrieved 7 Sept 2026.

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