Isolated Norrie disease in a female caused by a balanced translocation t(X,6)-Reference-Cited by-同舟云学术

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Isolated Norrie disease in a female caused by a balanced translocation t(X,6)

Published:1998-01 Issue:4 Volume:19 Page:203-207
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Meire F.M.,Lafaut B.A.,Speleman F.,Hanssens M.

Publisher

Swets & Zeitlinger Publishers

Subject

Genetics (clinical),Ophthalmology,Pediatrics, Perinatology and Child Health

Link

http://www.tandfonline.com/doi/pdf/10.1076/opge.19.4.203.2306

Reference20 articles.

1. Mutations in the Norrie disease gene

2. X-linked recessive primary retinal dysplasia is linked to the Norrie disease locus

3. The Norrie disease gene maps to a 150 kb region on chromosome Xp11.3

Cited by 12 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Editorial: Next generation sequencing (NGS) for rare diseases diagnosis ‐ Volume II;Frontiers in Genetics;2023-07-10

2. Next-generation sequencing reveals a case of Norrie disease in a child with bilateral ocular malformation;Frontiers in Genetics;2022-08-12

3. Nance–Horan syndrome in females due to a balanced X;1 translocation that disrupts the NHS gene: Familial case report and review of the literature;Ophthalmic Genetics;2017-09-18

4. Bilateral persistent fetal vasculature due to a mutation in the Norrie disease protein gene;The Neuroradiology Journal;2015-10-12

5. Detection of leukocoria using a soft fusion of expert classifiers under non-clinical settings;BMC Ophthalmology;2014-09-09

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