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Article

A new mutation in the C-terminal end of TTC37 leading to a mild form of syndromic diarrhea/tricho-hepato-enteric syndrome in seven patients from two families.

American journal of medical genetics. Part A - 1 Mar 2018

Fabre Alexandre, Petit Laetitia-Marie, Hansen Lars F, Wewer Anne V, Esteve Clothilde, Chaix Charlène, Bourgeois Patrice, Badens Catherine, Paerregaard Anders

Abstract excerpt

Syndromic diarrhea/tricho-hepato-enteric syndrome (SD/THE) is a rare congenital enteropathy with seven main clinical features: intractable diarrhea of infancy, hair abnormalities, intrauterine growth restriction (IUGR), facial dysmorphism, immune dysfunction, and liver and skin abnormalities. SD/THE is caused by mutations in TTC37 or SKIV2L, two genes encoding components of the human SKI complex. To date,...

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Identifiers

PMID: 29383842
DOI: 10.1002/ajmg.a.38618

Genes

SKI

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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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