Ontology highlight
ABSTRACT:
SUBMITTER: Ruf RG
PROVIDER: S-EPMC419562 | biostudies-literature | 2004 May
REPOSITORIES: biostudies-literature
Ruf Rainer G RG Xu Pin-Xian PX Silvius Derek D Otto Edgar A EA Beekmann Frank F Muerb Ulla T UT Kumar Shrawan S Neuhaus Thomas J TJ Kemper Markus J MJ Raymond Richard M RM Brophy Patrick D PD Berkman Jennifer J Gattas Michael M Hyland Valentine V Ruf Eva-Maria EM Schwartz Charles C Chang Eugene H EH Smith Richard J H RJ Stratakis Constantine A CA Weil Dominique D Petit Christine C Hildebrandt Friedhelm F
Proceedings of the National Academy of Sciences of the United States of America 20040512 21
Urinary tract malformations constitute the most frequent cause of chronic renal failure in the first two decades of life. Branchio-otic (BO) syndrome is an autosomal dominant developmental disorder characterized by hearing loss. In branchio-oto-renal (BOR) syndrome, malformations of the kidney or urinary tract are associated. Haploinsufficiency for the human gene EYA1, a homologue of the Drosophila gene eyes absent (eya), causes BOR and BO syndromes. We recently mapped a locus for BOR/BO syndrom ...[more]