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
  • [31] A case report of reversible generalized seizures in a patient with Waardenburg syndrome associated with a novel nonsense mutation in the penultimate exon of SOX 10
    Suzuki, Noriomi
    Mutai, Hideki
    Miya, Fuyuki
    Tsunoda, Tatsuhiko
    Terashima, Hiroshi
    Morimoto, Noriko
    Matsunaga, Tatsuo
    BMC PEDIATRICS, 2018, 18
  • [32] Central Retinal Vein Occlusion Associated with Hyperhomocysteinemia in a Patient with Heterozygous for the Methylenetetrahydrofolate Reductase C677T Mutation: Case Report
    Sakalar, Y. Bayezit
    Keklikci, Ugur
    Unlu, Kaan
    Caca, Ihsan
    Alakus, Mehmet Fuat
    TURKIYE KLINIKLERI TIP BILIMLERI DERGISI, 2012, 32 (04): : 1097 - 1100
  • [33] A case report of reversible generalized seizures in a patient with Waardenburg syndrome associated with a novel nonsense mutation in the penultimate exon of SOX10
    Noriomi Suzuki
    Hideki Mutai
    Fuyuki Miya
    Tatsuhiko Tsunoda
    Hiroshi Terashima
    Noriko Morimoto
    Tatsuo Matsunaga
    BMC Pediatrics, 18
  • [34] Intravitreal bevacizumab vs. sham treatment in acute branch retinal vein occlusion with macular edema: results at 3 months (Report 1)
    Moradian, Siamak
    Faghihi, Hooshang
    Sadeghi, Babak
    Piri, Niloofar
    Ahmadieh, Hamid
    Soheilian, Masoud
    Dehghan, Mohammad Hossein
    Azarmina, Mohsen
    Esfahani, Mohammad Riazi
    GRAEFES ARCHIVE FOR CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY, 2011, 249 (02) : 193 - 200
  • [35] Intravitreal bevacizumab vs. sham treatment in acute branch retinal vein occlusion with macular edema: results at 3 months (Report 1)
    Siamak Moradian
    Hooshang Faghihi
    Babak Sadeghi
    Niloofar Piri
    Hamid Ahmadieh
    Masoud Soheilian
    Mohammad Hossein Dehghan
    Mohsen Azarmina
    Mohammad Riazi Esfahani
    Graefe's Archive for Clinical and Experimental Ophthalmology, 2011, 249 : 193 - 200
1234