Next-generation sequencing reveals a novel NDP gene mutation in a Chinese family with Norrie disease

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Huang, Xiaoyan ; Tian, Mao ; Li, Jiankang ; Cui, Ling ; Li, Min ; Zhang, Jianguo (2017)
  • Publisher: Medknow Publications & Media Pvt Ltd
  • Journal: Indian Journal of Ophthalmology, volume 65, issue 11, pages 1,161-1,165 (issn: 0301-4738, eissn: 1998-3689)
  • Related identifiers: doi: 10.4103/ijo.IJO_442_17, pmc: PMC5700585
  • Subject: mutation | Original Article | RE1-994 | BGISEQ-500 | NDP gene | Ophthalmology | Norrie disease

Purpose: Norrie disease (ND) is a rare X-linked genetic disorder, the main symptoms of which are congenital blindness and white pupils. It has been reported that ND is caused by mutations in the NDP gene. Although many mutations in NDP have been reported, the genetic ca... View more
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