New Clinico-Genetic Classification of Trichothiodystrophy

    August 2009 in “ American Journal of Medical Genetics Part A ”
    Fanny Morice‐Picard, Muriel Cario, Hamid Rezvani … Alain Taı̈eb
    Studysummary This study systematically reviewed clinical findings in trichothiodystrophy patients and suggested a new clinico-genetic classification to help better understand the ichthyotic phenotype and its management.
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    Research cited in this study 11

    1. A Mouse Model for the Basal Transcription and DNA Repair Syndrome Trichothiodystrophy Molecular cell · 1998
    2. Trichothiodystrophy Associated With Urologic Malformation And Primary Hypercalciuria Pediatric Dermatology · 1997
    3. A New Case of Trichothiodystrophy Associated with Autism, Seizures, and Intellectual Disability Pediatric Dermatology · 1997
    4. Diagnosis of Trichothiodystrophy in Two Siblings Dermatology · 1997
    5. A New Case of Isolated Trichothiodystrophy Dermatology · 1993
    6. Trichothiodystrophy: Review of Sulfur-Deficient Brittle Hair Syndromes and Association with the Ectodermal Dysplasias Journal of the American Academy of Dermatology · 1990
    7. Low-Sulfur Hair Syndrome Associated with UVB Photosensitivity and Testicular Failure Journal of the American Academy of Dermatology · 1984
    8. Trichothiodystrophy: A Morphological and Biochemical Study PubMed · 1983
    9. Trichothiodystrophy: A Study on Sulfur-Deficient Brittle Hair and Associated Symptoms Archives of Dermatology · 1980
    10. Lamellar Ichthyosis, Dwarfism, Mental Retardation, and Hair Shaft Abnormalities Journal of the American Academy of Dermatology · 1980
    11. A Congenital Hair Defect: Trichoschisis With Alternating Birefringence and Low Sulfur Content Journal of Investigative Dermatology · 1970