A New Case of Trichothiodystrophy Associated with Autism, Seizures, and Intellectual Disability

    March 1997 in “ Pediatric Dermatology ”
    Carmelo Schepis, Maurizio Elia, Maddalena Siragusa, Mauro Barbareschi
    Studysummary This case report describes a patient with trichothiodystrophy presenting with autism, mental retardation, and seizures, characterized by distinct hair abnormalities under microscopy.
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    Research cited in this study 3

    1. A New Case of Isolated Trichothiodystrophy Dermatology · 1993
    2. Trichothiodystrophy: Review of Sulfur-Deficient Brittle Hair Syndromes and Association with the Ectodermal Dysplasias Journal of the American Academy of Dermatology · 1990
    3. Trichothiodystrophy: A Study on Sulfur-Deficient Brittle Hair and Associated Symptoms Archives of Dermatology · 1980