Variants in NR6A1 cause a novel oculo-vertebral-renal (OVR) syndrome
NR6A1基因变异会导致一种新型的眼-椎-肾(OVR)综合征。
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doi:10.1101/2024.11.09.24316578
Neelathi, Uma M; Ullah, Ehsan; George, Aman; Maftei, Mara I; Boobalan, Elangovan; Sanchez-Mendoza, Daniel; Adams, Chloe; McGaughey, David; Sergeev, Yuri V; Rawi, Ranya Ai; Naik, Amelia; Bender, Chelsea; Maumenee, Irene H; Michaelides, Michel; Tan, Tun Giap; Lin, Siying; Villasmil, Rafael; Blain, Delphine; Hufnagel, Robert B; Arno, Gavin; Young, Rodrigo M; Guan, Bin; Brooks, Brian P