Identification of novel PIKFYVE gene mutations associated with Fleck corneal dystrophy.
Molecular Vision
Gee, Jessica A JA; Frausto, Ricardo F RF; Chung, Duk-Won D DW; Tangmonkongvoragul, Chulaluck C; Le, Derek J DJ; Wang, Cynthia C; Han, Jonathan J; Aldave, Anthony J AJ
Publication Date: 2015
Variant appearance in text: PIKFYVE: 3088G>T; Glu1030*
A novel mutation (p.Glu1389AspfsX16) of the phosphoinositide kinase, FYVE finger containing gene found in a Japanese patient with fleck corneal dystrophy.
Molecular Vision
Kawasaki, Satoshi S; Yamasaki, Kenta K; Nakagawa, Hiroko H; Shinomiya, Katsuhiko K; Nakatsukasa, Mina M; Nakai, Yoshihide Y; Kinoshita, Shigeru S
Publication Date: 2012
Variant appearance in text: PIKFYVE: 3088G>T; E1030X
The IC3D classification of the corneal dystrophies.
Cornea
Weiss, Jayne S JS; Møller, H U HU; Lisch, Walter W; Kinoshita, Shigeru S; Aldave, Anthony J AJ; Belin, Michael W MW; Kivelä, Tero T; Busin, Massimo M; Munier, Francis L FL; Seitz, Berthold B; Sutphin, John J; Bredrup, Cecilie C; Mannis, Mark J MJ; Rapuano, Christopher J CJ; Van Rij, Gabriel G; Kim, Eung Kweon EK; Klintworth, Gordon K GK
Mutations in PIP5K3 are associated with François-Neetens mouchetée fleck corneal dystrophy.
American Journal Of Human Genetics
Li, Shouling S; Tiab, Leila L; Jiao, Xiaodong X; Munier, Francis L FL; Zografos, Leonidas L; Frueh, Béatrice E BE; Sergeev, Yuri Y; Smith, Janine J; Rubin, Benjamin B; Meallet, Mario A MA; Forster, Richard K RK; Hejtmancik, J Fielding JF; Schorderet, Daniel F DF