BIP! Finder - Tricho-Hepato-Enteric Syndrome mutation update: Mutations spectrum ofTTC37andSKIV2L, clinical analysis and future prospects

2018 • Tricho-Hepato-Enteric Syndrome mutation update: Mutations spectrum ofTTC37andSKIV2L, clinical analysis and future prospects

Authors: Christophe Béroud; Nicolas Lévy; Charlene Chaix; Patrice Bourgeois; Alexandre Fabre; Clothilde Esteve; Catherine Badens

Venue: Human Mutation

Type: Publication

Abstract: 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 report the phenotype and genotype analysis of this cohort together with an extensive literature review of THES cases worldwide, that ... (read more)

Topics: Genetics

DOI: 10.1002/humu.23418

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External links: Crossref OpenAIRE

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