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
A combination of mutations in AKR1D1 and SKIV2L in a family with severe infantile liver disease.
Morgan NV et al.
Orphanet Journal of Rare Diseases, 2013
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