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Tricho-Hepato-Enteric Syndrome mutation update: Mutations spectrum of TTC37 and SKIV2L, clinical analysis and future prospects.

Human mutation - 1 Jun 2018

Bourgeois Patrice, Esteve Clothilde, Chaix Charlène, Béroud Christophe, Lévy Nicolas, Fabre Alexandre, Badens Catherine

Abstract excerpt

Tricho-Hepato-Enteric syndrome (THES) is a very rare autosomal recessive syndromic enteropathy caused by mutations of either TTC37 or SKIV2L genes. Very little is known of these two gene products in mammals nor of the pathophysiology of the disease. Since the identification of the genes, we have set up the molecular diagnostic of THES in routine, gathering a large cohort with clinical and molecular data. Here, we...

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PMID: 29527791
DOI: 10.1002/humu.23418

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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