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Article

Intractable diarrhea with "phenotypic anomalies" and tricho-hepato-enteric syndrome: two names for the same disorder.

American journal of medical genetics. Part A - 15 Mar 2007

Fabre Alexandre, André Nicolas, Breton Anne, Broué Pierre, Badens Catherine, Roquelaure Bertrand

Abstract excerpt

Tricho-hepato-enteric syndrome and syndromic diarrhea are quite rare conditions with only 15 patients described to date. Both include severe diarrhea requiring total parenteral nutrition, facial dysmorphism, immunity defect, and hair abnormalities (mostly trichorrhexis nodosa). A definite clear clinical description of the two syndromes is lacking; the outcome is also poorly known. Here, we report on two...

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Identifiers

PMID: 17318842
DOI: 10.1002/ajmg.a.31634

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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