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
  • [21] Branch retinal artery occlusion in a patient with COVID-19 infection: A case report
    Jiang, Zhijian
    Ji, Huiying
    Zhang, Hui
    Dong, Ziyi
    Dong, Jianhong
    JOURNAL OF INTERNATIONAL MEDICAL RESEARCH, 2024, 52 (10)
  • [22] Case Report: A Novel Gross Deletion in PAX3 (10.26 kb) Identified in a Chinese Family With Waardenburg Syndrome by Third-Generation Sequencing
    Jin, Jie-Yuan
    Zeng, Lei
    Guo, Bing-Bing
    Dong, Yi
    Tang, Ju-Yu
    Xiang, Rong
    FRONTIERS IN GENETICS, 2021, 12
  • [23] A novel mutation of the MITF gene in a family with Waardenburg syndrome type 2: A case report
    Shi, Yunfang
    Li, Xiaozhou
    Ju, Duan
    Li, Yan
    Zhang, Xiuling
    Zhang, Ying
    EXPERIMENTAL AND THERAPEUTIC MEDICINE, 2016, 11 (04) : 1516 - 1518
  • [24] Novel mutations of PAX3, MITF, and SOX10 genes in Chinese patients with type I or type II Waardenburg syndrome
    Chen, Hongsheng
    Jiang, Lu
    Xie, Zhiguo
    Mei, Lingyun
    He, Chufeng
    Hu, Zhengmao
    Xia, Kun
    Feng, Yong
    BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 2010, 397 (01) : 70 - 74
  • [25] A splice-site mutation affecting the paired box of PAX3 in a three generation family with Waardenburg syndrome type I (WS1)
    Attaie, A
    Kim, E
    Wilcox, ER
    Lalwani, AK
    MOLECULAR AND CELLULAR PROBES, 1997, 11 (03) : 233 - 236
  • [26] Branch retinal artery occlusion in a patient undergoing Methotrexate therapy for ectopic pregnancy: A case report
    Gezer, Sener
    Vural, Birol
    Kirsavoglu, Mehtap
    Cakiroglu, Yigit
    JOURNAL OF THE PAKISTAN MEDICAL ASSOCIATION, 2020, 70 (02) : 357 - 359
  • [27] Pre-eclampsia and branch retinal artery occlusion in a 29-year-old primigravida with type 1 diabetes: A case report
    Tori, Katerina
    Wirostko, William
    Palatnik, Anna
    Klatt, Timothy
    CASE REPORTS IN WOMENS HEALTH, 2024, 43
  • [28] Recurrent Bilateral Branch Retinal Artery Occlusion with Hearing Loss and Encephalopathy: The First Case Report of Susac Syndrome in Korea
    Joe, Soo Geun
    Kim, June-Gone
    Kwon, Sun Uck
    Lee, Choong Wook
    Lim, Hyun Woo
    Yoon, Young Hee
    JOURNAL OF KOREAN MEDICAL SCIENCE, 2011, 26 (11) : 1518 - 1521
  • [29] Four mutations in MITF, SOX10 and PAX3 genes were identified as genetic causes of waardenburg syndrome in four unrelated Iranian patients: case report
    Safoura Zardadi
    Sima Rayat
    Maryam Hassani Doabsari
    Aliagha Alishiri
    Mohammad Keramatipour
    Zeynab Javanfekr Shahri
    Saeid Morovvati
    BMC Pediatrics, 21
  • [30] Four mutations in MITF, SOX10 and PAX3 genes were identified as genetic causes of waardenburg syndrome in four unrelated Iranian patients: case report
    Zardadi, Safoura
    Rayat, Sima
    Doabsari, Maryam Hassani
    Alishiri, Aliagha
    Keramatipour, Mohammad
    Shahri, Zeynab Javanfekr
    Morovvati, Saeid
    BMC PEDIATRICS, 2021, 21 (01)