For instance, mutations in the TBX6 gene have been implicated in various skeletal and kidney malformations, including congenital scoliosis and spondylocostal dysostosis. A recent case series ...

Kuure lab studies mechanisms of organogenesis with the focus on embryonic kidney and in vivo modeling of rare diseases. Congenital renal malformations are among the most common birth defects and arise ...

For instance, a study on Pallister-Hall syndrome found that approximately 27% of patients exhibited congenital anomalies of the kidney and urinary tract (CAKUT), highlighting the gene's role in ...