SON haploinsufficiency causes impaired pre-mRNA splicing of CAKUT genes and heterogeneous renal phenotypes.
Kidney International
Kim, Jung-Hyun JH; Park, Eun Young EY; Chitayat, David D; Stachura, David L DL; Schaper, Jörg J; Lindstrom, Kristin K; Jewett, Tamison T; Wieczorek, Dagmar D; Draaisma, Jos M JM; Sinnema, Margje M; Hoeberigs, Christianne C; Hempel, Maja M; Bachman, Kristine K KK; Seeley, Andrea H AH; Stone, Joshua K JK; Kong, Hyun Kyung HK; Vukadin, Lana L; Richard, Alexander A; Shinde, Deepali N DN; McWalter, Kirsty K; Si, Yue Cindy YC; Douglas, Ganka G; Lim, Ssang-Taek ST; Vissers, Lisenka E L M LELM; Lemaire, Mathieu M; Ahn, Eun-Young Erin EE