Incidence of Smith-Lemli-Opitz syndrome in Ontario, Canada

American Journal of Medical Genetics

Volumn 102, Issue 1, 2001, Pages 18-20

  Nowaczyk, Małgorzata J M ^a,d   McCaughey, Donna ^a   Whelan, Donald T ^b   Porter, Forbes D ^c  

^a MCMASTER UNIVERSITY   (Canada)

^b HAMILTON REGIONAL LABORATORY MEDICINE PROGRAM   (Canada)

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

^d MCMASTER UNIVERSITY MEDICAL CENTRE   (Canada)

Author keywords

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

Indexed keywords

7 DEHYDROCHOLESTEROL; OXIDOREDUCTASE;

ARTICLE; CANADA; CLINICAL ARTICLE; ENZYME DEFICIENCY; GENE MUTATION; HUMAN; INCIDENCE; MALE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SMITH LEMLI OPITZ SYNDROME;

DEHYDROCHOLESTEROLS; HUMANS; INCIDENCE; MUTATION; ONTARIO; OXIDOREDUCTASES; OXIDOREDUCTASES ACTING ON CH-CH GROUP DONORS; SEVERITY OF ILLNESS INDEX; SMITH-LEMLI-OPITZ SYNDROME;

EID: 0035934013     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/1096-8628(20010722)102:1<18::AID-AJMG1376>3.0.CO;2-E     Document Type: Article

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