Trichothiodystrophy with severe cardiac and neurological involvement in two sisters

European Journal of Pediatrics

Volumn 160, Issue 12, 2001, Pages 728-731

  Toelle, Sandra P ^a   Valsangiacomo, Emanuela ^a   Boltshauser, Eugen ^a  

^a UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

Author keywords

Cardiomyopathy; Congenital heart defect; Hypomyelination; Stroke; Trichothiodystrophy

Indexed keywords

DIGITALIS; DIURETIC AGENT; PROPAFENONE;

ARTICLE; BRAIN INFARCTION; CASE REPORT; CLINICAL FEATURE; DIAGNOSTIC PROCEDURE; DISEASE ASSOCIATION; FEMALE; HEARING IMPAIRMENT; HEART DILATATION; HUMAN; MYELINATION; NEUROLOGIC EXAMINATION; NEWBORN PERIOD; OSTEOSCLEROSIS; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; STROKE; TRICHOTHIODYSTROPHY;

EID: 0035213496     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004310100845     Document Type: Article

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