Associated Papers
Genetic diseases underlying a spectrum of fetal effusions.
Gulrajani NB et al.
American Journal of Obstetrics and Gynecology, 2025
Case Report: Novel Compound-Heterozygous Variants of SKIV2L Gene that Cause Trichohepatoenteric Syndrome 2.
Zhang Q et al.
Frontiers in Genetics, 2021
A flexible computational pipeline for research analyses of unsolved clinical exome cases.
Lassmann T et al.
Npj Genomic Medicine, 2020
Tricho-hepatic-enteric syndrome (THES) without intractable diarrhoea.
Poulton C et al.
Gene, 2019
Tricho-Hepato-Enteric Syndrome mutation update: Mutations spectrum of TTC37 and SKIV2L, clinical analysis and future prospects.
Bourgeois P et al.
Human Mutation, 2018
Trichohepatoenteric Syndrome Presenting with Severe Infection and Later Onset Diarrhoea.
Hosking LM et al.
Journal of Clinical Immunology, 2018
SKIV2L mutations cause syndromic diarrhea, or trichohepatoenteric syndrome.
Fabre A et al.
American Journal of Human Genetics, 2012
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