Smith-Lemli-Opitz syndrome: Phenotype, natural history, and epidemiology

American Journal of Medical Genetics, Part C: Seminars in Medical Genetics

Volumn 160 C, Issue 4, 2012, Pages 250-262

  Nowaczyk, Małgorzata J M ^a   Irons, Mira B ^b  

^a University in Hamilton   (Canada)

^b BOSTON CHILDREN S HOSPITAL   (United States)

Author keywords

2 3 toe syndactyly; 7 dehydrocholesterol; DHCR7; Smith Lemli Opitz syndrome

Indexed keywords

7 DEHYDROCHOLESTEROL; 7 DEHYDROCHOLESTEROL REDUCTASE; ALPHA FETOPROTEIN; ANDROSTENEDIOL; CHOLESTEROL; CHORIONIC GONADOTROPIN BETA SUBUNIT; ESTRIOL; PRASTERONE; PREGNANETRIOL; TESTOSTERONE; UNCLASSIFIED DRUG;

ARTICLE; ATTENTION DEFICIT DISORDER; AUTISM; CHOLESTEROL BLOOD LEVEL; CHOLESTEROL SYNTHESIS; CLEFT LIP; CLEFT PALATE; CLINICAL FEATURE; CONGENITAL CATARACT; DISEASE SEVERITY; EMBRYO DEVELOPMENT; ESTRIOL BLOOD LEVEL; GENE MUTATION; GENETIC COUNSELING; GROWTH RETARDATION; HIRSCHSPRUNG DISEASE; HUMAN; HYPERTENSION; INTRAUTERINE GROWTH RETARDATION; LIFE EXPECTANCY; LUNG HYPOPLASIA; MICROCEPHALY; PHENOTYPE; PHOTOSENSITIVITY; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; PYLORUS STENOSIS; SEIZURE; SMITH LEMLI OPITZ SYNDROME; SYNDACTYLY; TESTOSTERONE BLOOD LEVEL;

ADULT; CHILD; CHILD, PRESCHOOL; DEHYDROCHOLESTEROLS; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; MALE; OXIDOREDUCTASES ACTING ON CH-CH GROUP DONORS; PHENOTYPE; PREGNANCY; SMITH-LEMLI-OPITZ SYNDROME; YOUNG ADULT;

EID: 84867916556     PISSN: 15524868     EISSN: 15524876     Source Type: Journal    
DOI: 10.1002/ajmg.c.31343     Document Type: Article

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