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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