Associated Papers
Genetic diseases underlying a spectrum of fetal effusions.
Gulrajani NB et al.
American Journal of Obstetrics and Gynecology, 2025
The genetics of monogenic intestinal epithelial disorders.
Babcock SJ et al.
Human Genetics, 2023
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
The RNA exosome and RNA exosome-linked disease.
Morton DJ et al.
Rna (new York, N.y.), 2018
29093021 (PubMed )
Supplement: supp_064626.117_Supplemental_Tables_S1-S2.docx
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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