Pathogenic NR2F1 variants cause a developmental ocular phenotype recapitulated in a mutant mouse model.
Brain Communications
Jurkute, Neringa N; Bertacchi, Michele M; Arno, Gavin G; Tocco, Chiara C; Kim, Ungsoo Samuel US; Kruszewski, Adam M AM; Avery, Robert A RA; Bedoukian, Emma C EC; Han, Jinu J; Ahn, Sung Jun SJ; Pontikos, Nikolas N; Acheson, James J; Davagnanam, Indran I; Bowman, Richard R; Kaliakatsos, Marios M; Gardham, Alice A; Wakeling, Emma E; Oluonye, Ngozi N; Reddy, Maddy Ashwin MA; Clark, Elaine E; Rosser, Elisabeth E; Amati-Bonneau, Patrizia P; Charif, Majida M; Lenaers, Guy G; Meunier, Isabelle I; Defoort, Sabine S; Vincent-Delorme, Catherine C; Robson, Anthony G AG; Holder, Graham E GE; Jeanjean, Luc L; Martinez-Monseny, Antonio A; Vidal-Santacana, Mariona M; Dominici, Chloé C; Gaggioli, Cedric C; Giordano, Nadia N; Caleo, Matteo M; Liu, Grant T GT; , ; Webster, Andrew R AR; Studer, Michèle M; Yu-Wai-Man, Patrick P
Variant type and position predict two distinct limb phenotypes in patients with GLI3-mediated polydactyly syndromes.
Journal Of Medical Genetics
Baas, Martijn M; Burger, Elise Bette EB; van den Ouweland, Ans Mw AM; Hovius, Steven Er SE; de Klein, Annelies A; van Nieuwenhoven, Christianne A CA; Galjaard, Robert Jan H RJH