De novo 2q36.1q36.3 interstitial deletion involving the PAX3 and EPHA4 genes in a fetus with spina bifida and cleft palate

Birth Defects Research Part A - Clinical and Molecular Teratology

Volumn 100, Issue 6, 2014, Pages 507-511

  Goumy, Carole ^a   Gay Bellile, Mathilde ^a   Eymard Pierre, Eléonore ^a   Kemeny, Stephan ^a   Gouas, Laetitia ^a   Déchelotte, Pierre ^b   Gallot, Denis ^b   Véronèse, Lauren ^a   Tchirkov, Andrei ^a   Pebrel Richard, Céline ^a   Vago, Philippe ^a  

^a UNIVERSITÉ CLERMONT AUVERGNE   (France)

^b UNIVERSITY HOSPITAL OF CLERMONT FERRAND   (France)

Author keywords

2q36 deletion; Array CGH; Cleft palate; EPHA4; PAX3; Spina bifida

Indexed keywords

EPHRIN RECEPTOR A4; TRANSCRIPTION FACTOR PAX3; PAIRED BOX TRANSCRIPTION FACTOR; PAX3 PROTEIN, HUMAN;

ARTICLE; AUTOPSY; CHROMOSOME 2Q36.1Q36.3 INTERSTITIAL DELETION; CLEFT PALATE; COMPARATIVE GENOMIC HYBRIDIZATION; COPY NUMBER VARIATION; EAR MALFORMATION; FACE DYSMORPHIA; FEMALE; FETUS; FETUS DISEASE; GENE DELETION; GENETIC ASSOCIATION; HAPLOINSUFFICIENCY; HUMAN; HYPERTELORISM; INTERSTITIAL CHROMOSOME DELETION; MICROCEPHALY; PRIORITY JOURNAL; SPINAL DYSRAPHISM; ABNORMALITIES, MULTIPLE; ADULT; CASE REPORT; CHROMOSOME 2; CHROMOSOME DELETION; DEFICIENCY; GENE EXPRESSION REGULATION; GENETICS; KARYOTYPING; PATHOLOGY; PREGNANCY; PRENATAL DIAGNOSIS;

ABNORMALITIES, MULTIPLE; ADULT; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 2; CLEFT PALATE; COMPARATIVE GENOMIC HYBRIDIZATION; FEMALE; FETUS; GENE EXPRESSION REGULATION, DEVELOPMENTAL; HUMANS; KARYOTYPING; PAIRED BOX TRANSCRIPTION FACTORS; PREGNANCY; PRENATAL DIAGNOSIS; RECEPTOR, EPHA4; SPINAL DYSRAPHISM;

EID: 84903123220     PISSN: 15420752     EISSN: 15420760     Source Type: Journal    
DOI: 10.1002/bdra.23246     Document Type: Article

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