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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 pheno...

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Identifiers

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

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20176027-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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