Prenatal diagnosis of Smith-Lemli-Opitz syndrome (SLOS) by DHCR7 mutation analysis

Prenatal Diagnosis

Volumn 27, Issue 7, 2007, Pages 638-640

  Waye, John S ^a,b,c   Eng, Barry ^a   Nowaczyk, Małgorzata J M ^a,b  

^a HAMILTON REGIONAL LABORATORY MEDICINE PROGRAM   (Canada)

^b MCMASTER UNIVERSITY   (Canada)

^c MCMASTER UNIVERSITY MEDICAL CENTRE   (Canada)

Author keywords

Mutation analysis; Prenatal diagnosis; Smith Lemli Opitz syndrome

Indexed keywords

7 DEHYDROCHOLESTEROL;

AMNIOTIC FLUID CELL; ARTICLE; CHOLESTEROL SYNTHESIS; CHORION VILLUS SAMPLING; CLINICAL ARTICLE; DIAGNOSTIC ERROR; DNA ISOLATION; FEMALE; GENETIC SCREENING; HUMAN; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SMITH LEMLI OPITZ SYNDROME;

DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; OXIDOREDUCTASES ACTING ON CH-CH GROUP DONORS; PREGNANCY; PRENATAL DIAGNOSIS; SMITH-LEMLI-OPITZ SYNDROME;

EID: 34547217264     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.1735     Document Type: Article

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