A 17q12 chromosomal duplication associated with renal disease and esophageal atresia

European Journal of Medical Genetics

Volumn 54, Issue 4, 2011, Pages

  Faguer, Stanislas ^a,b,c   Chassaing, Nicolas ^c,d,e   Bandin, Flavio ^b   Prouheze, Cathie ^b,e   Arveiler, Benoît ^f   Rooryck, Caroline ^f   Nogier, Marie Béatrice ^a   Chauveau, Dominique ^a,b,c   Calvas, Patrick ^c,d,e   Decramer, Stéphane ^b  

^a CHU RANGUEIL   (France)

^b TOULOUSE UNIVERSITY HOSPITAL   (France)

^c UNIVERSITÉ PAUL SABATIER   (France)

^d INSERM   (France)

^e CHU PURPAN   (France)

^f BORDEAUX UNIVERSITY HOSPITAL   (France)

Author keywords

17q12 Duplication; Esophageal atresia; HNF1B; Kidney involvement

Indexed keywords

ADULT; ARTICLE; CHILD; CHROMOSOME 17; CHROMOSOME 17Q12; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CLINICAL ARTICLE; CONTRALATERAL HYPERECHOGENIC KIDNEY; DISEASE ASSOCIATION; ESOPHAGUS ATRESIA; FEMALE; HUMAN; KIDNEY HYPOPLASIA; MALE; MULTICYSTIC DYSPLATIC KIDNEY; PATIENT IDENTIFICATION; POINT MUTATION; PRESCHOOL CHILD; SCREENING; VESICOURETERAL REFLUX;

ADULT; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 17; ESOPHAGEAL ATRESIA; FEMALE; HEPATOCYTE NUCLEAR FACTOR 1-BETA; HETEROZYGOTE; HUMANS; INFANT; KIDNEY DISEASES; MALE; MUTATION; PHENOTYPE; RETROSPECTIVE STUDIES; TRISOMY;

EID: 79960080770     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2011.03.010     Document Type: Article

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