Xq12q13.1 microduplication encompassing the EFNB1 gene in a boy with congenital diaphragmatic hernia

European Journal of Medical Genetics

Volumn 54, Issue 5, 2011, Pages

  Petit, Florence ^a   Andrieux, Joris ^a   Holder Espinasse, Muriel ^a   Bouquillon, Sonia ^a   Pennaforte, Thomas ^a   Storme, Laurent ^a   Manouvrier Hanu, Sylvie ^a  

^a LILLE UNIVERSITY HOSPITAL   (France)

Author keywords

Congenital diaphragmatic hernia; Craniofrontonasal syndrome; EFNB1; OPHN1

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CHROMOSOME DUPLICATION; CHROMOSOME XQ; COMPARATIVE GENOMIC HYBRIDIZATION; CONGENITAL DIAPHRAGM HERNIA; EFNB1 GENE; GENE; GENE DOSAGE; GENE IDENTIFICATION; HUMAN; MALE; OPHN1 GENE; PJA1 GENE; PRESCHOOL CHILD; STARD8 GENE; YIPF6 GENE;

CHROMOSOME BANDING; CHROMOSOMES, HUMAN, X; COMPARATIVE GENOMIC HYBRIDIZATION; EPHRIN-B1; GENE DOSAGE; HERNIA, DIAPHRAGMATIC; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; MALE; PHENOTYPE; SEX CHROMOSOME ABERRATIONS; SEX CHROMOSOME DISORDERS; TRISOMY;

EID: 79961129276     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2011.06.011     Document Type: Article

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