First Trimester Prenatal Diagnosis of Smith-Lemli-Opitz Syndrome (7-Dehydrocholesterol Reductase Deficiency)

Pediatric Research

Volumn 39, Issue 5, 1996, Pages 816-819

  Mills, Kevin ^a   Mandel, Hanna ^b   Montemagno, Rodolfo ^c   Soothill, Peter ^c   Gershoni Baruch, R ^b   Clayton, Peter T ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b RAMBAM MEDICAL CENTER   (Israel)

^c ROYAL FREE AND UNIVERSITY COLLEGE MEDICAL SCHOOL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

7 DEHYDROCHOLESTEROL REDUCTASE; CHOLESTEROL; OXIDOREDUCTASE; UNCLASSIFIED DRUG;

ADULT; AMNIOCENTESIS; ARTICLE; CASE REPORT; CHORION VILLUS SAMPLING; CONTROLLED STUDY; FEMALE; FETUS; FIRST TRIMESTER PREGNANCY; GAS CHROMATOGRAPHY; HIGH RISK PREGNANCY; HUMAN; HUMAN CELL; HUMAN TISSUE; MASS SPECTROMETRY; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SKIN FIBROBLAST; SMITH LEMLI OPITZ SYNDROME;

AMNIOCENTESIS; AMNIOTIC FLUID; CASE-CONTROL STUDIES; CHOLESTEROL; CHORIONIC VILLI; CHORIONIC VILLI SAMPLING; FEMALE; GESTATIONAL AGE; HUMANS; OXIDOREDUCTASES; OXIDOREDUCTASES ACTING ON CH-CH GROUP DONORS; PREGNANCY; PRENATAL DIAGNOSIS; SMITH-LEMLI-OPITZ SYNDROME;

EID: 0029936714     PISSN: 00313998     EISSN: None     Source Type: Journal    
DOI: 10.1203/00006450-199605000-00012     Document Type: Article

References (13)

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