Role of copy number variants in structural birth defects

Pediatrics

Volumn 129, Issue 4, 2012, Pages 755-763

  Southard, Abigail E ^a   Edelmann, Lisa J ^a   Gelb, Bruce D ^a  

^a MOUNT SINAI SCHOOL OF MEDICINE   (United States)

Author keywords

Comparative genomic hybridization; Congenital abnormalities; Congenital heart disease; Craniofacial abnormalities; DNA copy number variations

Indexed keywords

BIRTH DEFECT; CARDIOVASCULAR MALFORMATION; CHD2 GENE; CHROMOSOME DELETION; CLEFT LIP; CLEFT PALATE; COMPARATIVE GENOMIC HYBRIDIZATION; CONGENITAL DIAPHRAGM HERNIA; CONGENITAL HEART DISEASE; COPY NUMBER VARIATION; CRANIOFACIAL MALFORMATION; CRANIOFACIAL SYNOSTOSIS; DIGEORGE SYNDROME; EFNB1 GENE; EHMT GENE; FDFR1 GENE; FGFR2 GENE; FGFR3 GENE; GALNT11 GENE; GENE; GENE FREQUENCY; GENE IDENTIFICATION; GENE LOCUS; GENE MUTATION; GENETIC ASSOCIATION; HUMAN; KIDNEY MALFORMATION; MACROCEPHALY; MICROCEPHALY; MILLER DIEKER SYNDROME; MOSAICISM; MSX2 GENE; NEK2 GENE; NKX2.5 GENE; NOTCH1 GENE; NPAS3 GENE; NR2F2 GENE; NSD1 GENE; NUP188 GENE; PAFAH1B1 GENE; PAFAH2B1 GENE; PATHOGENESIS; PHENOTYPE; PLXDC2 GENE; PRIORITY JOURNAL; RESPIRATORY TRACT DISEASE; REVIEW; ROCK2 GENE; RUNX2 GENE; SINGLE NUCLEOTIDE POLYMORPHISM; SINGLE SUTURE CRANIOSYNOSTOSIS; SOTOS SYNDROME; SOX17 GENE; SUMO1 GENE; SYSTEMATIC REVIEW; TBX1 GENE; TCGBR2 GENE; TFAP2A GENE; TWIST1 GENE; URINARY TRACT MALFORMATION; VAN DER WOUDE SYNDROME; YWHAE GENE;

EID: 84859419056     PISSN: 00314005     EISSN: 10984275     Source Type: Journal    
DOI: 10.1542/peds.2011-2337     Document Type: Review

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