Associated Papers
Case Report: Novel Compound-Heterozygous Variants of SKIV2L Gene that Cause Trichohepatoenteric Syndrome 2.
Zhang Q et al.
Frontiers in Genetics, 2021
Tricho-Hepato-Enteric Syndrome mutation update: Mutations spectrum of TTC37 and SKIV2L, clinical analysis and future prospects.
Bourgeois P et al.
Human Mutation, 2018
Combined Immunodeficiency in Patients With Trichohepatoenteric Syndrome.
Vély F et al.
Frontiers in Immunology, 2018
Syndromic diarrhea/Tricho-hepato-enteric syndrome.
Fabre A et al.
Orphanet Journal of Rare Diseases, 2013
SKIV2L mutations cause syndromic diarrhea, or trichohepatoenteric syndrome.
Fabre A et al.
American Journal of Human Genetics, 2012
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