Disease: Trichothiodystrophy sun sensitivity
- A case of severe trichothiodystrophy 3 in a neonate due to mutation in the GTF2H5 gene: Clinical report
- Adult-Onset Neurodegeneration in Nucleotide Excision Repair Disorders (NERD(ND) ): Time to Move Beyond the Skin
- Adult-Onset Neurodegeneration in Nucleotide Excision Repair Disorders (NERD<sub>ND</sub> ): Time to Move Beyond the Skin
- Do you know this syndrome? Ichthyosis associated with neurological condition and alteration of hairs
- Every protagonist has a sidekick: Structural aspects of human xeroderma pigmentosum-binding proteins in nucleotide excision repair
- Facial clues to the photosensitive trichothiodystrophy phenotype in childhood
- Heterogeneity and overlaps in nucleotide excision repair disorders
- Malar rash in a young child with neurodevelopmental delay: a quiz
- Metronidazole-Induced Hepatitis in a Teenager With Xeroderma Pigmentosum and Trichothiodystrophy Overlap
- Peripheral neuropathies associated with DNA repair disorders
- Photosensitivity
- Photosensitivity
- Reduced levels of prostaglandin I(2) synthase: a distinctive feature of the cancer-free trichothiodystrophy
- Reduced levels of prostaglandin I<sub>2</sub> synthase: a distinctive feature of the cancer-free trichothiodystrophy
- Signaling Pathways, Chemical and Biological Modulators of Nucleotide Excision Repair: The Faithful Shield against UV Genotoxicity
- TFIIH central activity in nucleotide excision repair to prevent disease
- TFIIH mutations can impact on translational fidelity of the ribosome
- TFIIH stabilization recovers the DNA repair and transcription dysfunctions in thermo-sensitive trichothiodystrophy
- The face of Non-photosensitive trichothiodystrophy phenotypic spectrum: A subsequent study on paediatric population
- The nucleotide excision repair proteins through the lens of molecular dynamics simulations
- The role of Transcription Factor IIH complex in nucleotide excision repair