title: Trichothiodystrophy: report of a new case with severe nervous system impairment.
authors.affiliation: Pediatric Clinic, Catania University, Italy.
authors.forename: R
authors.initials: R
authors.lastname: Rizzo
authors.forename: L
authors.initials: L
authors.lastname: Pavone
authors.forename: G
authors.initials: G
authors.lastname: Micali
authors.forename: S
authors.initials: S
authors.lastname: Calvieri
authors.forename: L
authors.initials: L
authors.lastname: Di Gregorio
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics; D061085:Agenesis of Corpus Callosum; D002675:Child, Preschool; D003553:Cystine / Q000172:deficiency; D005260:Female; D006197:Hair / Q000473:pathology; D006201:Hair Diseases / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007057:Ichthyosis / Q000175:diagnosis / Q000235:genetics; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D008855:Microscopy, Electron, Scanning; D009422:Nervous System Diseases / Q000175:diagnosis / Q000235:genetics*; D009460:Neurologic Examination; D009896:Optic Atrophy / Q000175:diagnosis / Q000235:genetics
chemical_list: D003553:Cystine