Cornelia de Lange syndrome: Antenatal diagnosis in two consecutive pregnancies due to rare gonadal mosaicism of NIPBL gene mutation

Journal of Maternal-Fetal and Neonatal Medicine

Volumn 24, Issue 7, 2011, Pages 978-982

  Weichert, Jan ^a,c   Schröer, Andreas ^a   Beyer, Daniel Alexander ^a   Gillessen Kaesbach, Gabriele ^b   Stefanova, Irina ^b  

^a UNIVERSITY HOSPITAL SCHLESWIG HOLSTEIN   (Germany)

^b UNIVERSITY OF LÜBECK   (Germany)

^c UNIVERSITY HOSPITAL SCHLESWIG HOLSTEIN   (Germany)

Author keywords

Cornelia de Lange syndrome; dysmorphism; genetic disorder; germline mosaicism; prenatal ultrasound

Indexed keywords

CHORIONIC GONADOTROPIN BETA SUBUNIT; GENE PRODUCT; PREGNANCY ASSOCIATED PLASMA PROTEIN A; PROTEIN NIPBL; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CASE REPORT; DE LANGE SYNDROME; ECHOGRAPHY; EXON; FEMALE; FETUS; GENETIC ANALYSIS; GESTATIONAL AGE; GONADAL MOSAICISM; HETEROZYGOSITY; HUMAN; MICROGNATHIA; MICROMELIA; MOSAICISM; NIPBL GENE; NONSENSE MUTATION; PREGNANCY; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RECURRENCE RISK;

ADULT; CODON, NONSENSE; DE LANGE SYNDROME; FEMALE; HUMANS; MOSAICISM; PREGNANCY; PRENATAL DIAGNOSIS; PROTEINS;

EID: 79958067880     PISSN: 14767058     EISSN: 14764954     Source Type: Journal    
DOI: 10.3109/14767058.2010.531312     Document Type: Article

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