Faguer, Stanislas A 17q12 chromosomal duplication associated with renal disease and esophageal atresia. [electronic resource] - European journal of medical genetics - e437-40 p. digital Publication Type: Case Reports; Journal Article ISSN: 1878-0849 Standard No.: 10.1016/j.ejmg.2011.03.010 doi Subjects--Topical Terms: AdultChildChild, PreschoolChromosomes, Human, Pair 17--geneticsEsophageal Atresia--geneticsFemaleHepatocyte Nuclear Factor 1-beta--geneticsHeterozygoteHumansInfantKidney Diseases--geneticsMaleMutation--geneticsPhenotypeRetrospective StudiesTrisomy--genetics