Associated Papers
Trichothiodystrophy type 3 with a mutation in the GTF2H5 gene: A case report in Argentina.
Dri J et al.
Archivos Argentinos De Pediatria, 2025
Severe trichothiodystrophy and cardiac malformation in a newborn carrying a novel GTF2H5 homozygous truncating variant.
Sorrentino U et al.
Clinical Genetics, 2023
Every protagonist has a sidekick: Structural aspects of human xeroderma pigmentosum-binding proteins in nucleotide excision repair.
Feltes BC
Protein Science : a Publication of the Protein Society, 2021
Trichothiodystrophy group A: a first Japanese patient with a novel homozygous nonsense mutation in the GTF2H5 gene.
Moriwaki S et al.
The Journal of Dermatology, 2014
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