Mutación del gen HNF1β como causa de riñones fetales hiperecogénicos

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.