Sterol concentrations in cultured Smith-Lemli-Opitz syndrome skin fibroblasts: Diagnosis of a biochemically atypical case of the syndrome

American Journal of Medical Genetics

Volumn 68, Issue 3, 1997, Pages 282-287

  Honda, Akira ^a   Stephen Tint, G ^a   Salen, Gerald ^a   Kelley, Richard I ^a   Honda, Megumi ^a   Batta, Ashok K ^a   Chen, Thomas S ^a   Shefer, Sarah ^a  

^a VETERANS AFFAIRS MEDICAL CENTER   (United States)

Author keywords

7 dehydrocholesterol; 8 dehydrocholesterol; skin fibroblast; Smith Lemli Opitz syndrome

Indexed keywords

ADOLESCENT; ARTICLE; CHILD; CHOLESTEROL SYNTHESIS; CLINICAL ARTICLE; DIAGNOSTIC ACCURACY; DIAGNOSTIC VALUE; FEMALE; HUMAN; MALE; PRIORITY JOURNAL; SKIN FIBROBLAST; SMITH LEMLI OPITZ SYNDROME;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; DEHYDROCHOLESTEROLS; FEMALE; FIBROBLASTS; HUMANS; INFANT; INFANT, NEWBORN; MALE; SMITH-LEMLI-OPITZ SYNDROME; STEROLS;

BOVINAE;

EID: 0031052774     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19970131)68:3<282::AID-AJMG7>3.0.CO;2-O     Document Type: Article

References (26)

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