DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract
Alexandria T.M. Blackburn, Nasim Bekheirnia, Vanessa C. Uma, Mark E. Corkins, Yuxiao Xu, Jill Anne Rosenfeld, Matthew N. Bainbridge, Yaping Yang, Pengfei Liu, Suneeta Madan‐Khetarpal, Mauricio R. Delgado, Louanne Hudgins, Ian D. Krantz, David Rodriguez‐Buritica, Patricia G. Wheeler, , Mir Reza Bekheirnia
The paper investigates congenital kidney and urinary tract anomalies and genital defects in DYRK1A mutation carriers, showing DYRK1A's role in genitourinary development through Xenopus studies.
Genetics in Medicine · Jul 1, 2019Peer-reviewedGenetics