Disease: Hair defect with photosensitivity and mental retardation
- A case of severe trichothiodystrophy 3 in a neonate due to mutation in the GTF2H5 gene: Clinical report
- A Japanese trichothiodystrophy patient with XPD mutations
- A mutation in the XPB/ERCC3 DNA repair transcription gene, associated with trichothiodystrophy
- A new nucleotide-excision-repair gene associated with the disorder trichothiodystrophy
- A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A
- Bi-allelic TARS Mutations Are Associated with Brittle Hair Phenotype
- Central nervous system dysmyelination in PIBI(D)S syndrome: a further case
- Defective dendritic cell maturation in a child with nucleotide excision repair deficiency and CD4 lymphopenia
- Defects in the DNA repair and transcription gene ERCC2(XPD) in trichothiodystrophy
- DNA repair characteristics and mutations in the ERCC2 DNA repair and transcription gene in a trichothiodystrophy patient
- DNA repair deficient photodermatoses
- DNA repair investigations in nine Italian patients affected by trichothiodystrophy
- Do you know this syndrome? Ichthyosis associated with neurological condition and alteration of hairs
- G2 phase repair of X-ray-induced chromosomal DNA damage in trichothiodystrophy cells
- Genetic heterogeneity of the excision repair defect associated with trichothiodystrophy
- Human diseases associated with defective DNA excision repair
- Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy
- Immune defects in families and patients with xeroderma pigmentosum and trichothiodystrophy
- Intermittent hair loss in a child with PIBI(D)S syndrome and trichothiodystrophy with defective DNA repair-xeroderma pigmentosum group D
- Low-sulfur hair syndrome associated with UVB photosensitivity and testicular failure
- Nucleotide excision repair syndromes: molecular basis and clinical symptoms
- Photocarcinogenesis and inhibition of intercellular adhesion molecule 1 expression in cells of DNA-repair-defective individuals
- PIBI(D)S: clinical and molecular characterization of a new case
- Prenatal diagnosis in a subset of trichothiodystrophy patients defective in DNA repair
- Prenatal diagnosis of PIBIDS
- Reduced level of the repair/transcription factor TFIIH in trichothiodystrophy
- Rothmund-Thomson syndrome. A case report, phototesting, and literature review
- Search for consanguinity within and among families of patients with trichothiodystrophy associated with xeroderma pigmentosum
- Syndromes associated with trichothiodystrophy
- The comet assay as a repair test for prenatal diagnosis of Xeroderma pigmentosum and trichothiodystrophy
- Trichothiodystrophy
- Trichothiodystrophy associated with photosensitivity, gonadal failure, and striking osteosclerosis
- Trichothiodystrophy group A: a first Japanese patient with a novel homozygous nonsense mutation in the GTF2H5 gene
- Trichothiodystrophy, a human DNA repair disorder with heterogeneity in the cellular response to ultraviolet light
- Trichothiodystrophy: clinical spectrum, central nervous system imaging, and biochemical characterization of two siblings
- Trichothiodystrophy: from basic mechanisms to clinical implications
- Trichothiodystrophy: Photosensitive, TTD-P, TTD, Tay syndrome
- Unraveling DNA repair in human: molecular mechanisms and consequences of repair defect
- Xeroderma pigmentosum (complementation group D) mutation is present in patients affected by trichothiodystrophy with photosensitivity