Prenatal diagnosis of Smith-Lemli-Opitz syndrome;Diagnóstico pré-natal de síndrome de Smith-Lemli-Opitz

Arquivos de Medicina

Volumn 19, Issue 1-2, 2005, Pages

  Cardoso, Maria Luís ^a,g   Fortuna, Ana Maria ^a   Castedo, Sérgio ^b   Martins, Margarida ^c   Montenegro, Nuno ^d   Jakobsll, Cornells ^e   Clayton, Peter ^f   Vilarinho, Laura ^a  

^a NATIONAL INSTITUTE OF HEALTH DR RICARDO JORGE   (Portugal)

^b Centro de Diagnóstico Pré Natal   (Portugal)

^c HOSPITAL PEDRO HISPANO   (Portugal)

^d HOSPITAL DE SÃO JOÃO   (Portugal)

^e VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^f UNIVERSITY COLLEGE LONDON   (United Kingdom)

^g Instituto de Genática Mádica Jacinto Magalhães   (Portugal)

Author keywords

7 dehydrocholesterol; Ambiguous genitalia; Cholesterol; DHCR7; IVS81G>C; Nuchal translucency; Oestriol; Prenatal diagnosis; Smith Lemli Opitz syndrome

Indexed keywords

7 DEHYDROCHOLESTEROL; CHOLESTEROL; DNA; ESTRIOL;

ADULT; AMNION FLUID ANALYSIS; CASE REPORT; CHOLESTEROL BLOOD LEVEL; DHCR7 GENE; DOWN SYNDROME; ESTRIOL BLOOD LEVEL; FEMALE; FETUS; GENE; GENE MUTATION; HUMAN; HUMAN TISSUE; NUCHAL TRANSLUCENCY MEASUREMENT; PREGNANCY TERMINATION; REVIEW; SMITH LEMLI OPITZ SYNDROME;

EID: 31944450677     PISSN: 08713413     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

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