A large family with inherited optic disc anomalies: a correlation between a new genetic locus and complex ocular phenotypes-Reference-Cited by-同舟云学术

A large family with inherited optic disc anomalies: a correlation between a new genetic locus and complex ocular phenotypes

Published:2017-08-10 Issue:1 Volume:7 Page:
ISSN:2045-2322
Container-title:Scientific Reports
language:en
Short-container-title:Sci Rep

Author:

Wang Decai,Pan Xinyuan,Ji Jiangdong,Gu Shun,Sun Xiantao,Jiang Chao,Xia Weiyi,Qiu Zhihua,Kang Xiaoli,Ding Sijia,Liu Qinghuai,Chen Xue,Lu Fang,Zhao Chen

Publisher

Springer Science and Business Media LLC

Subject

Multidisciplinary

Link

http://www.nature.com/articles/s41598-017-07730-7.pdf

Reference25 articles.

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2. Brodsky, M. C. Congenital optic disk anomalies. Survey of ophthalmology 39, 89–112 (1994).

3. Honkanen, R. A. et al. Familial cavitary optic disk anomalies: clinical features of a large family with examples of progressive optic nerve head cupping. American journal of ophthalmology 143, 788–794, doi: 10.1016/j.ajo.2007.01.029 (2007).

4. Savell, J. & Cook, J. R. Optic nerve colobomas of autosomal-dominant heredity. Archives of ophthalmology 94, 395–400 (1976).

5. Azuma, N. et al. Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations. American journal of human genetics 72, 1565–1570, doi: 10.1086/375555 (2003).

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