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

Author:

Bourgeois Patrice12ORCID,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.

1. Successful application of whole genome sequencing in a medical genetics clinic;Bick;Journal of Pediatric Genetics,2017

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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