Variants in PAX6, PITX3 and HSF4 causing autosomal dominant congenital cataracts

被引：0
|
作者：
Vanita Berry
Alex Ionides
Nikolas Pontikos
Anthony T. Moore
Roy A. Quinlan
Michel Michaelides
机构：
[1] University College London,UCL Institute of Ophthalmology
[2] Moorfields Eye Hospital NHS Foundation Trust,School of Biological and Medical Sciences
[3] University of Durham,undefined
来源：
Eye | 2022年 / 36卷
关键词：
D O I：
暂无
中图分类号：
学科分类号：
摘要：
引用
收藏
页码：1694 / 1701
页数：7
相关论文
共 27 条
  • [21] Functional study of a PAX6 non-stop mutation causing autosomal dominant Retinitis Pigmentosa
    Lin, W.
    Liu, C.
    Hu, L.
    Chung, C.
    Chien, J.
    Lin, M.
    Huang, S.
    Ching, Y.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 62 - 62
  • [22] A novel GJA3 mutation causing autosomal dominant congenital perinuclear cataracts
    Zhu, Yanan
    Li, Nanlan
    Yao, Ke
    Wang, Wei
    Li, Jinyu
    BMC OPHTHALMOLOGY, 2025, 25 (01)
  • [23] Identification of PAX6 and FOXE3 mutations in a sample of congenital cataracts and aniridia patients.
    Bitoun, P
    Bremond-Gignac, D
    Even, D
    Frees, K
    Benzacken, B
    Benzacken, L
    Murray, JC
    Semina, E
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2004, 45 : U943 - U943
  • [24] Identification of dominant FOXE3 and PAX6 mutations in patients with congenital cataract and aniridia
    Bremond-Gignac, Dominique
    Bitoun, Pierre
    Reis, Linda M.
    Copin, Henri
    Murray, Jeffrey C.
    Semina, Elena V.
    MOLECULAR VISION, 2010, 16 (183-84): : 1705 - 1711
  • [25] Novel and recurrent PITX3 mutations in Belgian families with autosomal dominant congenital cataract and anterior segment dysgenesis have similar phenotypic and functional characteristics
    Verdin, Hannah
    Sorokina, Elena A.
    Meire, Francoise
    Casteels, Ingele
    de Ravel, Thomy
    Semina, Elena V.
    De Baere, Elfride
    ORPHANET JOURNAL OF RARE DISEASES, 2014, 9
  • [26] Novel and recurrent PITX3 mutations in Belgian families with autosomal dominant congenital cataract and anterior segment dysgenesis have similar phenotypic and functional characteristics
    Hannah Verdin
    Elena A Sorokina
    Françoise Meire
    Ingele Casteels
    Thomy de Ravel
    Elena V Semina
    Elfride De Baere
    Orphanet Journal of Rare Diseases, 9
  • [27] Identification of novel variants in CYP1B1, PITX2, FOXC1, and PAX6 in congenital glaucoma and anterior segment dysgenesis
    Micheal, Shazia
    Siddiqui, Sorath Noorani
    Zafar, Saemah Nuzhat
    Florijn, Ralph J.
    Bikker, Hennie
    Boon, Camiel J. F.
    Khan, Muhammad
    Den Hollander, Anneke I.
    Bergen, Arthur
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2017, 58 (08)
123