• A functional link between lariat debranching enzyme and the intron-binding complex is defective in non-photosensitive trichothiodystrophy
• A rare ocular manifestation of trichothiodystrophy: Focal retinal dystrophy
• Activation of human RNA lariat debranching enzyme Dbr1 by binding protein TTDN1 occurs though an intrinsically disordered C-terminal domain
• Case for diagnosis. Hair analysis in a child with delayed psychomotor development and fragile and brittle hair: Trichothiodystrophy
• Chromosome Instability Syndromes
• Chromosome Instability Syndromes
• Debilitating hip degeneration in trichothiodystrophy: Association with ERCC2/XPD mutations, osteosclerosis, osteopenia, coxa valga, contractures, and osteonecrosis
• Establishment of a human induced pluripotent stem cell line, KMUGMCi003-A, from a patient with trichothiodystrophy 1 (TTD1) bearing compound heterozygous missense mutations in the ERCC2 gene
• Evaluation of immunological abnormalities in patients with rare syndromes
• Expanding the phenotype of GTF2E2-associated trichothiodystrophy
• Facial clues to the photosensitive trichothiodystrophy phenotype in childhood
• Impaired B-cell function in <em>ERCC2</em> deficiency
• Metronidazole-Induced Hepatitis in a Teenager With Xeroderma Pigmentosum and Trichothiodystrophy Overlap
• Nucleolar TFIIE plays a role in ribosomal biogenesis and performance
• Ribosomal Dysfunction Is a Common Pathomechanism in Different Forms of Trichothiodystrophy
• Severe trichothiodystrophy and cardiac malformation in a newborn carrying a novel GTF2H5 homozygous truncating variant
• Solving the Riddle of Developmental Delay with Hair Microscopy: Trichothiodystrophy (MPLKIP Mutation in an Indian Child)
• 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 Multifaceted Syndromic Primary Immunodeficiencies in Children
• Trichothiodystrophy
• Trichothiodystrophy hair shafts display distinct ultrastructural features
• Trichothiodystrophy-associated MPLKIP maintains DBR1 levels for proper lariat debranching and ectodermal differentiation
• Tufted hair at birth: A previously undescribed peculiar sign of trichothiodystrophy