A novel PAX3 mutation in a Korean patient with Waardenburg syndrome type 1 and unilateral branch retinal vein and artery occlusion: a case report

被引:0
|
作者
Eun Young Choi
Wungrak Choi
Christopher Seungkyu Lee
机构
[1] Yonsei University College of Medicine,Department of Ophthalmology, The Institute of Vision Research, Gangnam Severance Hospital
[2] Yonsei University College of Medicine,Department of Ophthalmology, The Institute of Vision Research, Severance Hospital
来源
BMC Ophthalmology | / 18卷
关键词
Waardenburg syndrome; PAX3 gene mutation; Hyperhomocysteinemia; Branch retinal vein occlusion; Branch retinal artery occlusion;
D O I
暂无
中图分类号
学科分类号
摘要
引用
收藏
相关论文
共 35 条
  • [1] A novel PAX3 mutation in a Korean patient with Waardenburg syndrome type 1 and unilateral branch retinal vein and artery occlusion: a case report
    Choi, Eun Young
    Choi, Wungrak
    Lee, Christopher Seungkyu
    BMC OPHTHALMOLOGY, 2018, 18
  • [2] Branch retinal vein occlusion in a patient with Waardenburg syndrome
    Kadoi, C
    Hayasaka, S
    Yamamoto, S
    OPHTHALMOLOGICA, 1996, 210 (06) : 354 - 357
  • [3] A Novel PAX3 Mutation in a Chinese Family with Waardenburg Syndrome Type 1
    Li, Shuling
    Guo, Min
    Ruan, Biao
    Liu, Ya
    Cui, Xin
    Han, Weiwei
    Li, Ruomei
    GENETIC TESTING AND MOLECULAR BIOMARKERS, 2020, 24 (05) : 249 - 255
  • [4] A novel PAX3 mutation in a Chinese Han family with Waardenburg syndrome type 1
    Guo, Min
    Li, Qing
    Jiang, Chaowu
    Li, Shuling
    Ruan, Biao
    INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY, 2021, 147
  • [5] Mutation of PAX3 and MITF genes in a family with type 1 Waardenburg syndrome: a case series
    Muhiddin, Habibah Setyawati
    Rimayanti, Ulfah
    Latama, Fadhlullah
    Ichsan, Andi Muhammad
    Akib, Marliyanti Nur Rahmah
    Poli, Adelina Titirina
    Budu
    Pratiwi, Andi
    MEDICAL JOURNAL OF INDONESIA, 2023, 32 (02) : 137 - 142
  • [6] Sequential occlusion of the branch retinal artery and branch retinal vein in a patient with hypertension: an interventional case report
    Okamoto, Norio
    Matsumoto, Chota
    Shimomura, Yoshikazu
    CLINICAL OPHTHALMOLOGY, 2014, 8 : 2121 - 2123
  • [7] Germinal mosaicism of PAX3 mutation caused Waardenburg syndrome type I
    Chen, Kaitian
    Zhan, Yuan
    Wu, Xuan
    Zong, Ling
    Jiang, Hongyan
    INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY, 2018, 104 : 200 - 204
  • [8] Identification and functional analysis of a novel mutation in the PAX3 gene associated with Waardenburg syndrome type I
    Niu, Zhijie
    Li, Jiada
    Tang, Fen
    Sun, Jie
    Wang, Xueping
    Jiang, Lu
    Mei, Lingyun
    Chen, Hongsheng
    Liu, Yalan
    Cai, Xinzhang
    Feng, Yong
    He, Chufeng
    GENE, 2018, 642 : 362 - 366
  • [9] Identification and functional analysis of a novel missense mutation of PAX3 associated with Waardenburg syndrome type I
    Zhijie Niu
    Lingyun Mei
    Fen Tang
    Jiada Li
    Xueping Wang
    Jie Sun
    Chufeng He
    Hongsheng Cheng
    Yalan Liu
    Xinzhang Cai
    Jian Song
    Yong Feng
    Lu Jiang
    European Archives of Oto-Rhino-Laryngology, 2021, 278 : 2807 - 2815
  • [10] Identification and functional analysis of a novel missense mutation of PAX3 associated with Waardenburg syndrome type I
    Niu, Zhijie
    Mei, Lingyun
    Tang, Fen
    Li, Jiada
    Wang, Xueping
    Sun, Jie
    He, Chufeng
    Cheng, Hongsheng
    Liu, Yalan
    Cai, Xinzhang
    Song, Jian
    Feng, Yong
    Jiang, Lu
    EUROPEAN ARCHIVES OF OTO-RHINO-LARYNGOLOGY, 2021, 278 (08) : 2807 - 2815