Pathogenic NR2F1 variants cause a developmental ocular phenotype recapitulated in a mutant mouse model
致病性NR2F1变异体导致发育性眼部表型,该表型在突变小鼠模型中得到重现。
期刊:Brain Communications
影响因子:4.5
doi:10.1093/braincomms/fcab162
Jurkute, Neringa; Bertacchi, Michele; Arno, Gavin; Tocco, Chiara; Kim, Ungsoo Samuel; Kruszewski, Adam M; Avery, Robert A; Bedoukian, Emma C; Han, Jinu; Ahn, Sung Jun; Pontikos, Nikolas; Acheson, James; Davagnanam, Indran; Bowman, Richard; Kaliakatsos, Marios; Gardham, Alice; Wakeling, Emma; Oluonye, Ngozi; Reddy, Maddy Ashwin; Clark, Elaine; Rosser, Elisabeth; Amati-Bonneau, Patrizia; Charif, Majida; Lenaers, Guy; Meunier, Isabelle; Defoort, Sabine; Vincent-Delorme, Catherine; Robson, Anthony G; Holder, Graham E; Jeanjean, Luc; Martinez-Monseny, Antonio; Vidal-Santacana, Mariona; Dominici, Chloé; Gaggioli, Cedric; Giordano, Nadia; Caleo, Matteo; Liu, Grant T; Webster, Andrew R; Studer, Michèle; Yu-Wai-Man, Patrick