TY  - GEN
AU  - Faguer,Stanislas
AU  - Chassaing,Nicolas
AU  - Bandin,Flavio
AU  - Prouheze,Cathie
AU  - Arveiler,Benoît
AU  - Rooryck,Caroline
AU  - Nogier,Marie-Béatrice
AU  - Chauveau,Dominique
AU  - Calvas,Patrick
AU  - Decramer,Stéphane
TI  - A 17q12 chromosomal duplication associated with renal disease and esophageal atresia
SN  - 1878-0849
PY  - 2011///1031
KW  - Adult
KW  - Child
KW  - Child, Preschool
KW  - Chromosomes, Human, Pair 17
KW  - genetics
KW  - Esophageal Atresia
KW  - Female
KW  - Hepatocyte Nuclear Factor 1-beta
KW  - Heterozygote
KW  - Humans
KW  - Infant
KW  - Kidney Diseases
KW  - Male
KW  - Mutation
KW  - Phenotype
KW  - Retrospective Studies
KW  - Trisomy
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1016/j.ejmg.2011.03.010
ER  -