Difficult prenatal diagnosis in mild Smith-Lemli-Opitz syndrome

American Journal of Medical Genetics

Volumn 95, Issue 4, 2000, Pages 396-398

  Nowaczyk, Małgorzata J M ^a   Heshka, Tim ^a   Kratz, Lisa E ^b   Kelley, Richard E ^b  

^a MCMASTER UNIVERSITY   (Canada)

^b JOHNS HOPKINS UNIVERSITY   (United States)

Author keywords

7 dehydrocholesterol; DHCR7; Prenatal diagnosis; Smith Lemli Opitz syndrome

Indexed keywords

ARTICLE; CHOLESTEROL SYNTHESIS; CHORION VILLUS SAMPLING; CONTROLLED STUDY; FETUS; GENE MUTATION; HUMAN; HUMAN TISSUE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SMITH LEMLI OPITZ SYNDROME;

ADULT; AMNIOTIC FLUID; CHORIONIC VILLI SAMPLING; DEHYDROCHOLESTEROLS; DIAGNOSIS, DIFFERENTIAL; FEMALE; HUMANS; NUCLEAR FAMILY; PREGNANCY; PRENATAL DIAGNOSIS; SMITH-LEMLI-OPITZ SYNDROME;

EID: 0034639292     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/1096-8628(20001211)95:4<396::AID-AJMG18>3.0.CO;2-L     Document Type: Article

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