Cornelia de Lange syndrome (CdLS): Prenatal and autopsy findings

Prenatal Diagnosis

Volumn 29, Issue 5, 2008, Pages 489-494

  Chong, Karen ^a,b,c   Keating, Sarah ^b   Hurst, Stephanie ^d   Summers, Anne ^e   Berger, Howard ^f   Seaward, Gareth ^b   Martin, Nicole ^a,b   Friedberg, Tami ^a,b   Chitayat, David ^a,b,c,g  

^a UNIVERSITY OF TORONTO   (Canada)

^b MOUNT SINAI HOSPITAL   (Canada)

^c HOSPITAL FOR SICK CHILDREN   (Canada)

^d LAKERIDGE HEALTH CORPORATION   (Canada)

^e NORTH YORK GENERAL HOSPITAL   (Canada)

^f ST MICHAEL'S HOSPITAL   (Canada)

^g ONTARIO POWER GENERATION   (Canada)

Author keywords

Cornelia de lange; Cystic hygroma; First trimester screening; Limb reduction defect; Nipbl gene; PAPP A

Indexed keywords

BINDING PROTEIN; PREGNANCY ASSOCIATED PLASMA PROTEIN A; PROTEIN NIPBL; UNCLASSIFIED DRUG;

ADULT; AMNIOCENTESIS; ARTICLE; AUTOPSY; CASE REPORT; CYSTIC LYMPHANGIOMA; DE LANGE SYNDROME; FEMALE; FETUS; FIRST TRIMESTER PREGNANCY; GENE MUTATION; HUMAN; INTRAUTERINE GROWTH RETARDATION; PREGNANCY TERMINATION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL;

ADULT; AUTOPSY; DE LANGE SYNDROME; FEMALE; HUMANS; MALE; MUTATION; PREGNANCY; PREGNANCY-ASSOCIATED PLASMA PROTEIN-A; PROTEINS; ULTRASONOGRAPHY, PRENATAL; YOUNG ADULT;

EID: 66849126210     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.2228     Document Type: Article

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