Tricho-Hepato-Enteric Syndrome mutation update: Mutations spectrum of TTC37 and SKIV2L , clinical analysis and future prospects-Reference-Cited by-同舟云学术

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

Published:2018-03-25 Issue:6 Volume:39 Page:774-789
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Bourgeois Patrice¹²^ORCID,Esteve Clothilde²,Chaix Charlène¹,Béroud Christophe¹²,Lévy Nicolas¹²,Fabre Alexandre²³,Badens Catherine¹²,

Affiliation:

1. Molecular genetics Laboratory; Medical genetics and Cell biology Department; La Timone children's hospital; Assistance-Publique des Hôpitaux de Marseille (APHM); Marseille France

2. GMGF; Aix Marseille Univ; Marseille France

3. Multidisciplinary Pediatric Service - La Timone Children's Hospital; Assistance-Publique des Hôpitaux de Marseille (APHM); Marseille France

Funder

Agence Nationale pour la Recherche

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference47 articles.

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2. EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia;Boczonadi;Nature Communications,2014

3. A new genetic mutation in a patient with syndromic diarrhea and hepatoblastoma;Bozzetti;Journal of Pediatric Gastroenterology and Nutrition,2013

4. IBD-like features in syndromic diarrhea/trichohepatoenteric syndrome;Busoni;Journal of Pediatric Gastroenterology and Nutrition,2016

5. Congenital diarrhoeal disorders: Advances in this evolving web of inherited enteropathies;Canani;Nature Reviews Gastroenterology and Hepatology,2015

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