Associated Papers
Novel RNF113A Variant Underlying X-Linked Trichothiodystrophy With Presumed Mosaicism in an Unaffected Mother.
Rabin R et al.
American Journal of Medical Genetics. Part A, 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
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