Decreased cholesterol synthesis as a possible aetiological factor in malformations of Trisomy 18

European Journal of Medical Genetics

Volumn 49, Issue 2, 2006, Pages 195-199

  Lam, Wayne W K ^a   Kirk, J ^b   Manning, N ^c   Reardon, W ^d   Kelley, R I ^e   FitzPatrick, D ^a  

^a WESTERN GENERAL HOSPITAL   (United Kingdom)

^b ROYAL HOSPITAL FOR SICK CHILDREN   (United Kingdom)

^c SHEFFIELD CHILDREN S HOSPITAL   (United Kingdom)

^d Our Lady's Children's Hospital   (United States)

^e DEPARTMENT OF PATHOLOGY   (United States)

Author keywords

Cholesterol; Edwards; Smith Lemli Opitz; Sterol biosynthesis; Trisomy 18

Indexed keywords

BILE ACID; CHOLESTEROL; STEROID HORMONE;

ANEUPLOIDY; ARTICLE; BILE ACID BLOOD LEVEL; CASE REPORT; CHOLESTEROL BLOOD LEVEL; CHOLESTEROL SYNTHESIS; CONTROLLED STUDY; DOWN REGULATION; DOWN SYNDROME; EDWARDS SYNDROME; HUMAN; MULTIPLE MALFORMATION SYNDROME; NEWBORN; PHENOTYPE; STEROID BLOOD LEVEL; TRISOMY 18;

AMNIOTIC FLUID; CHOLESTEROL; CHROMOSOMES, HUMAN, PAIR 18; HUMANS; SMITH-LEMLI-OPITZ SYNDROME; TRISOMY;

EID: 33644865457     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2005.05.011     Document Type: Article

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