Copy number detection in discordant monozygotic twins of Congenital Diaphragmatic Hernia (CDH) and Esophageal Atresia (EA) cohorts

European Journal of Human Genetics

Volumn 20, Issue 3, 2012, Pages 298-304

  Veenma, Danielle ^a,b   Brosens, Erwin ^a,b   De Jong, Elisabeth ^a,b   Van De Ven, Cees ^a   Meeussen, Connie ^a   Cohen Overbeek, Titia ^c   Boter, Marjan ^b   Eussen, Hubertus ^b   Douben, Hannie ^b   Tibboel, Dick ^a   De Klein, Annelies ^b  

^a Department of Paediatric Surgery ^*  (Netherlands)

^b ERASMUS MEDICAL CENTER   (Netherlands)

^c SOPHIA CHILDREN S HOSPITAL   (Netherlands)

Author keywords

congenital anomaly; congenital diaphragmatic hernia; copy number variation; esophageal atresia; monozygotic twins; phenotypic discordance

Indexed keywords

DNA; TRANSCRIPTION FACTOR 7 LIKE 2;

ARTICLE; CELL MATURATION; CHROMOSOME; CHROMOSOME 10Q; CHROMOSOME 10Q26; CLINICAL ARTICLE; CONGENITAL DIAPHRAGM HERNIA; CONTROLLED STUDY; EPIGENETICS; ESOPHAGUS ATRESIA; FETUS; GENE DOSAGE; GENETIC ANALYSIS; GERM LINE; HUMAN; MONOZYGOTIC TWINS; MUSCLE CELL; NETHERLANDS; PHENOTYPE; PREVALENCE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; TWIN DISCORDANCE;

CHROMOSOMES, HUMAN, PAIR 10; CHROMOSOMES, HUMAN, PAIR 22; COHORT STUDIES; DISEASES IN TWINS; DNA COPY NUMBER VARIATIONS; ESOPHAGEAL ATRESIA; GENOTYPE; HERNIA, DIAPHRAGMATIC; HUMANS; POLYMORPHISM, SINGLE NUCLEOTIDE; TWINS, MONOZYGOTIC;

EID: 84857194005     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2011.194     Document Type: Article

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