title: Further delineation of the classical Smith-Lemli-Opitz syndrome phenotype at different patient ages: clinical and biochemical studies.
abstract: We present here extensive clinical and biochemical data on thirteen SLOS (type I) patients with proven defect in cholesterol biosynthesis for further delineation of the classical SLOS phenotype at different patient ages.
mesh_terms: D000375:Aging / Q000378:metabolism / Q000473:pathology*; D000886:Anthropometry; D002784:Cholesterol / Q000096:biosynthesis; D005260:Female; D006801:Humans; D008297:Male; D010641:Phenotype; D019082:Smith-Lemli-Opitz Syndrome / Q000378:metabolism* / Q000473:pathology* / Q000503:physiopathology