Associated Papers
The face of Non-photosensitive trichothiodystrophy phenotypic spectrum: A subsequent study on paediatric population.
Pascolini G et al.
Molecular Genetics & Genomic Medicine, 2024
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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