<i>DLG5</i> variants are associated with multiple congenital anomalies including ciliopathy phenotypes

Abstract

These findings in both patient tissues and <i>Xenopus</i> shed light on how mutations in <i>DLG5</i> may lead to tissue-specific manifestations of disease. DLG5 is essential for cilia and many of the patient phenotypes are in the ciliopathy spectrum.