De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome
LC Burrage, WL Charng, MK Eldomery, JR Willer, EE Davis, D Lugtenberg, W Zhu, MS Leduc, ZC Akdemir, M Azamian, G Zapata, PP Hernandez, J Schoots, SA De Munnik, R Roepman, Jillian Pearring, S Jhangiani, N Katsanis, LELM Vissers, HG Brunner, AL Beaudet, JA Rosenfeld, DM Muzny, RA Gibbs, CM Eng, F Xia, SR Lalani, JR Lupski, EMHF Bongers, Y Yang
GPR179 is required for depolarizing bipolar cell function and is mutated in autosomal-recessive complete congenital stationary night blindness
NS Peachey, TA Ray, R Florijn, LB Rowe, T Sjoerdsma, S Contreras-Alcantara, K Baba, G Tosini, N Pozdeyev, PM Iuvone, P Bojang, Jillian Pearring, HJ Simonsz, M Van Genderen, DG Birch, EI Traboulsi, A Dorfman, I Lopez, H Ren, AFX Goldberg, PM Nishina, P Lachapelle, MA McCall, RK Koenekoop, AAB Bergen, M Kamermans, RG Gregg