Malformation syndromes caused by disorders of cholesterol synthesis

Journal of Lipid Research

Volumn 52, Issue 1, 2011, Pages 6-34

  Porter, Forbes D ^a   Herman, Gail E ^b  

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

^b OHIO STATE UNIVERSITY   (United States)

Author keywords

Cholesterol biosynthesis; Genetics; Smith Lemli Opitz syndrome

Indexed keywords

7 DEHYDROCHOLESTEROL; CYTOCHROME P450 REDUCTASE; DESMOSTEROL; OXYSTEROL; PROTEIN PATCHED; SIMVASTATIN; SMOOTHENED PROTEIN; STEROL 14ALPHA DEMETHYLASE;

ANTLEY BIXLER SYNDROME; AUTOSOMAL RECESSIVE INHERITANCE; BEHAVIOR CHANGE; CHOLESTEROL BLOOD LEVEL; CHOLESTEROL INTAKE; CHOLESTEROL SYNTHESIS; CHONDRODYSPLASIA PUNCTATA; CHROMOSOME 11Q; CHROMOSOME 1Q; CHROMOSOME 4Q; CONRADI HUNERMANN SYNDROME; DESMOSTEROLOSIS; DHCR14 GENE; DHCR24 GENE; DHCR7 GENE; DIET SUPPLEMENTATION; EBP GENE; GENE; GENE IDENTIFICATION; HUMAN; HYDROPS ECTOPIC CALCIFICATION MOTH EATEN SKELETAL DYSPLASIA; INCIDENCE; LATHOSTEROLOSIS; LBR GENE; MALFORMATION SYNDROME; MISSENSE MUTATION; NONHUMAN; PATHOGENESIS; POR GENE; PRIORITY JOURNAL; REVIEW; SC5D GENE; SMITH LEMLI OPITZ SYNDROME; STEROID METABOLISM; STEROL SYNTHESIS; SYNDACTYLY; SYNDROME CHILDS; X CHROMOSOMAL INHERITANCE;

ABNORMALITIES, MULTIPLE; ANIMALS; CHOLESTEROL; CHONDRODYSPLASIA PUNCTATA; CONGENITAL ABNORMALITIES; HUMANS; LIPID METABOLISM, INBORN ERRORS; OXIDOREDUCTASES ACTING ON CH-CH GROUP DONORS; SMITH-LEMLI-OPITZ SYNDROME; STEROID METABOLISM, INBORN ERRORS; SYNDROME;

EID: 78650909128     PISSN: 00222275     EISSN: 15397262     Source Type: Journal    
DOI: 10.1194/jlr.R009548     Document Type: Review

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