Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interaction.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Williamson, Kathleen A KA; Hall, H Nikki HN; Owen, Liusaidh J LJ; Livesey, Benjamin J BJ; Hanson, Isabel M IM; Adams, G G W GGW; Bodek, Simon S; Calvas, Patrick P; Castle, Bruce B; Clarke, Michael M; Deng, Alexander T AT; Edery, Patrick P; Fisher, Richard R; Gillessen-Kaesbach, Gabriele G; Heon, Elise E; Hurst, Jane J; Josifova, Dragana D; Lorenz, Birgit B; McKee, Shane S; Meire, Francoise F; Moore, Anthony T AT; Parker, Michael M; Reiff, Charlotte M CM; Self, Jay J; Tobias, Edward S ES; Verheij, Joke B G M JBGM; Willems, Marjolaine M; Williams, Denise D; van Heyningen, Veronica V; Marsh, Joseph A JA; FitzPatrick, David R DR