The RSH/"Smith-Lemli-Opitz" Syndrome: Historical footnote

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

Volumn 160 C, Issue 4, 2012, Pages 242-249

  Opitz, John M ^b   Furtado, Larissa V ^a,c  

^a UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^b UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY OF MICHIGAN   (United States)

Author keywords

Autosomal recessive; Development; DHCR7 deficiency; Rat and mouse models; RSH "Smith Lemli Opitz" syndrome

Indexed keywords

7 DEHYDROCHOLESTEROL; 7 DEHYDROCHOLESTEROL REDUCTASE; BILE ACID; CHOLESTEROL; OXIDOREDUCTASE; SIMVASTATIN; SONIC HEDGEHOG PROTEIN; STEROL; UNCLASSIFIED DRUG;

ARTICLE; DEVELOPMENTAL BIOLOGY; DIET THERAPY; EXCHANGE BLOOD TRANSFUSION; GENE MUTATION; HUMAN; NONHUMAN; PRIORITY JOURNAL; SMITH LEMLI OPITZ SYNDROME; STEROL SYNTHESIS; TERATOLOGY;

ADULT; ANIMALS; CHOLESTEROL; DEHYDROCHOLESTEROLS; FEMALE; HISTORY, 20TH CENTURY; HUMANS; INFANT; MALE; MICE; OXIDOREDUCTASES ACTING ON CH-CH GROUP DONORS; RATS; SMITH-LEMLI-OPITZ SYNDROME;

ANIMALIA; ERINACEIDAE; GARRODIA; MAMMALIA; RATTUS;

EID: 84867909645     PISSN: 15524868     EISSN: 15524876     Source Type: Journal    
DOI: 10.1002/ajmg.c.31341     Document Type: Article

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