Associated Papers
Genetic Findings in Short Turkish Children Born to Consanguineous Parents.
Joustra SD et al.
Hormone Research in Paediatrics, 2025
Expanding the phenotypic and genotypic characteristics of trichohepatoenteric syndrome: a report of eight patients from five unrelated families.
Ozturk M et al.
Molecular Biology Reports, 2024
Tricho-Hepato-Enteric Syndrome mutation update: Mutations spectrum of TTC37 and SKIV2L, clinical analysis and future prospects.
Bourgeois P et al.
Human Mutation, 2018
A new mutation in the C-terminal end of TTC37 leading to a mild form of syndromic diarrhea/tricho-hepato-enteric syndrome in seven patients from two families.
Fabre A et al.
American Journal of Medical Genetics. Part A, 2018
Trichohepatoenteric syndrome: A rare mutation in SKIV2L gene in the first Balkan reported case.
Xinias I et al.
Sage Open Medical Case Reports, 2018
SKI complex: A multifaceted cytoplasmic RNA exosome cofactor in mRNA metabolism with links to disease, developmental processes, and antiviral responses.
Tomecki R et al.
Wiley Interdisciplinary Reviews. Rna, 0
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