Associated Papers
Twins With Pathogenic RNF113A Variant Presenting With Testicular Regression Syndrome.
Resnick O et al.
Jcem Case Reports, 2026
A novel truncating variant in ring finger protein 113A (RNF113A) confirms the association of this gene with X-linked trichothiodystrophy.
Mendelsohn BA et al.
American Journal of Medical Genetics. Part A, 2020
Select a paper to view details