| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 2813352 | Diagnóstico Prenatal | 2013 | 4 Pages |
Abstract
Firstly, a well-documented case is presented of hyperechogenic foetal kidneys associated to a mutation in HNF1β, with echographic images, and a genetic and corresponding pathology study. Secondly, to present the finding of the sequence variant in exon 2 c.443C > T (p.Ser148Leu) of HNF1β associated with the hyperechogenic foetal kidneys in our case.
Keywords
Related Topics
Life Sciences
Biochemistry, Genetics and Molecular Biology
Genetics
Authors
Alberto López GarcÃa,