[HTML][HTML] LGR4/GPR48 inactivation leads to aniridia-genitourinary anomalies-mental retardation syndrome defects

T Yi, J Weng, S Siwko, J Luo, D Li, M Liu - Journal of Biological Chemistry, 2014 - ASBMB
AGR syndrome (the clinical triad of aniridia, genitourinary anomalies, and mental
retardation, a subgroup of WAGR syndrome for Wilm's tumor, aniridia, genitourinary
anomalies, and mental retardation) is a rare syndrome caused by a contiguous gene
deletion in the 11p13–14 region. However, the mechanisms of WAGR syndrome
pathogenesis are elusive. In this study we provide evidence that LGR4 (also named
GPR48), the only G-protein-coupled receptor gene in the human chromosome 11p12 …