Discordant phenotype and sterol biochemistry in Smith-Lemli-Opitz syndrome

American Journal of Medical Genetics, Part A

Volumn 152, Issue 8, 2010, Pages 2094-2098

  Koo, Grace ^a   Conley, Sandra K ^a   Wassif, Christopher A ^a   Porter, Forbes D ^a  

^a EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

Author keywords

7 dehydrocholesterol (7DHC); Cholesterol; Inborn errors; Malformations; SLOS; Smith Lemli Optiz syndrome

Indexed keywords

7 DEHYDROCHOLESTEROL; 7 DEHYDROCHOLESTEROL REDUCTASE; CHOLESTEROL; GENE PRODUCT; STEROL; UNCLASSIFIED DRUG;

ARTICLE; CASE REPORT; CHOLESTEROL BLOOD LEVEL; CHOLESTEROL SYNTHESIS; DHCR7 GENE; DISEASE SEVERITY; EMBRYO DEVELOPMENT; ENZYME MECHANISM; FEMALE; FIBROBLAST; GENE; GENE MUTATION; HUMAN; HUMAN CELL; INFANT; PERINATAL PERIOD; PHENOTYPE; PRIORITY JOURNAL; RNA TRANSCRIPTION; SMITH LEMLI OPITZ SYNDROME;

ADULT; CHOLESTEROL; DEHYDROCHOLESTEROLS; FEMALE; HUMANS; INFANT, NEWBORN; MALE; MUTATION; OXIDOREDUCTASES ACTING ON CH-CH GROUP DONORS; PHENOTYPE; SMITH-LEMLI-OPITZ SYNDROME;

EID: 77955302138     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33540     Document Type: Article

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