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    Glossary Trichothiodystrophy

    rare genetic disorder causing brittle hair and developmental issues

    Trichothiodystrophy (TTD) is a rare genetic disorder characterized by brittle hair due to a deficiency in sulfur-containing proteins. It often involves other symptoms such as intellectual disability, developmental delays, and photosensitivity. The condition is linked to mutations in genes involved in DNA repair and transcription, making it a complex syndrome with a wide range of clinical manifestations.

    Research 10 of 186

    1. A Mouse Model for the Basal Transcription/DNA Repair Syndrome Trichothiodystrophy Molecular cell · 1998 · 188 citations
    2. Trichothiodystrophy Archives of Dermatology · 1980 · 175 citations
    3. Trichothiodystrophy: Review of sulfur-deficient brittle hair syndromes and association with the ectodermal dysplasias Journal of the American Academy of Dermatology · 1990 · 144 citations
    4. Structural and Molecular Hair Abnormalities in Trichothiodystrophy 2006 · 71 citations
    5. New clinico‐genetic classification of trichothiodystrophy American Journal of Medical Genetics Part A · 2009 · 68 citations
    6. Conformational differences in protein disulfide linkages between normal hair and hair from subjects with trichothiodystrophy: A quantitative analysis by Raman microspectroscopy Biopolymers · 2006 · 53 citations
    7. Trichothiodystrophy: an ultrastructural study of the hair follicle British Journal of Dermatology · 1985 · 42 citations
    8. A New Case of Isolated Trichothiodystrophy Dermatology · 1993 · 26 citations
    9. [Trichothiodystrophy: a morphological and biochemical study]. PubMed · 1983 · 26 citations
    10. In utero Diagnosis of Trichothiodystrophy by Endoscopically-Guided Fetal Eyebrow Biopsy Fetal Diagnosis and Therapy · 2000 · 21 citations
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