Ontology highlight
ABSTRACT:
SUBMITTER: Schild R
PROVIDER: S-EPMC3616761 | biostudies-literature | 2013 Jan
REPOSITORIES: biostudies-literature
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 20121221 1
Renal hypodysplasia (RHD) is characterized by small and/or disorganized kidneys following abnormal organogenesis. Mutations in several genes have been identified recently to be associated with RHD in humans, including BMP4, a member of the transforming growth factor (TGF)-β family of growth factors. DACH1 has been proposed as a candidate gene for RHD because of its involvement in the EYA-SIX-DACH network of renal developmental genes. Here, we present a patient with renal dysplasia carrying homoz ...[more]