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

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

1878-0849

10.1016/j.ejmg.2011.03.010 doi


Adult
Child
Child, Preschool
Chromosomes, Human, Pair 17--genetics
Esophageal Atresia--genetics
Female
Hepatocyte Nuclear Factor 1-beta--genetics
Heterozygote
Humans
Infant
Kidney Diseases--genetics
Male
Mutation--genetics
Phenotype
Retrospective Studies
Trisomy--genetics