Trichothiodystrophy: report of a new case with severe nervous system impairment.
Rizzo
R
R
Pediatric Clinic, Catania University, Italy.
Pavone
L
L
Micali
G
G
Calvieri
S
S
Di Gregorio
L
L
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
D003553:Cystine