Missense mutation in the PAX6 gene in a family with isolated foveal hypoplasia

被引:0
|
作者
Azuma, N
Nishina, S
Yanagisawa, H
Okuyama, T
Yamada, M
机构
[1] NATL CHILDRENS HOSP,DEPT OPHTHALMOL,TOKYO 154,JAPAN
[2] NATL CHILDRENS MED RES CTR,TOKYO 154,JAPAN
关键词
D O I
暂无
中图分类号
R77 [眼科学];
学科分类号
100212 ;
摘要
引用
收藏
页码:707 / 707
页数:1
相关论文
共 50 条
  • [1] PAX6 missense mutation in isolated foveal hypoplasia
    Azuma, N
    Nishina, S
    NATURE GENETICS, 1996, 13 (02) : 141 - 142
  • [2] A family with congenital nystagmus, microcornea, keratitis and foveal hypoplasia associated with a missense mutation in the PAX6 gene mutation
    Sonoda, S
    Isashiki, Y
    Tabata, Y
    Kimura, K
    Kakiuchi, T
    Ohba, N
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 1999, 40 (04) : S468 - S468
  • [3] Missense mutation in the PAX6 gene in a family with anterior segment anomalies
    Azuma, N
    Nishina, S
    Yamada, M
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 1997, 38 (04) : 117 - 117
  • [4] PAX6 missense variants in two families with isolated foveal hypoplasia and nystagmus: evidence of paternal postzygotic mosaicism
    Dulce Lima Cunha
    Nicholas Owen
    Vijay Tailor
    Marta Corton
    Maria Theodorou
    Mariya Moosajee
    European Journal of Human Genetics, 2021, 29 : 349 - 355
  • [5] Functional Characteristics of Diverse PAX6 Mutations Associated with Isolated Foveal Hypoplasia
    Matsushita, Itsuka
    Izumi, Hiroto
    Ueno, Shinji
    Hayashi, Takaaki
    Fujinami, Kaoru
    Tsunoda, Kazushige
    Iwata, Takeshi
    Kiuchi, Yoshiaki
    Kondo, Hiroyuki
    GENES, 2023, 14 (07)
  • [6] High-resolution imaging analysis of foveal hypoplasia with a novel PAX6 mutation
    Gocho, Kiyoko
    Kubota, Daiki
    Kikuchi, Sachiko
    Igarashi, Tsutomu
    Takahashi, Hiroshi
    Kameya, Shuhei
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2018, 59 (09)
  • [7] Extreme myopia in a family with a missense PAX6 mutation: extended phenotype
    Smirnov, Vasily M.
    Calvas, Patrick
    Drumare, Isabelle
    Marks, Caroline
    Defoort-Dhellemmes, Sabine
    OPHTHALMIC GENETICS, 2019, 40 (01) : 64 - 65
  • [8] A Novel Splice Site Mutation in the PAX6 Gene in a Korean Family with Isolated Aniridia
    Chang, Mi Sun
    Han, Jong Chul
    Lee, Jieun
    Kwun, Younghee
    Huh, Rimm
    Ki, Chang-Seok
    Kee, Changwon
    Cho, Sung Yoon
    Jin, Dong-Kyu
    ANNALS OF CLINICAL AND LABORATORY SCIENCE, 2015, 45 (01): : 90 - 93
  • [9] Missense mutations in the PAX6 gene in aniridia
    Azuma, N
    Hotta, Y
    Tanaka, H
    Yamada, M
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 1998, 39 (13) : 2524 - 2528
  • [10] Autosomal-dominant nystagmus, foveal hypoplasia and presenile cataract associated with a novel PAX6 mutation
    Thomas, Shery
    Thomas, Mervyn G.
    Andrews, Caroline
    Chan, Wai-Man
    Proudlock, Frank A.
    McLean, Rebecca J.
    Pradeep, Archana
    Engle, Elizabeth C.
    Gottlob, Irene
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2014, 22 (03) : 344 - 349