A homozygous mutation p.Arg2167Trp in FREM2 causes isolated cryptophthalmos-Reference-Cited by-同舟云学术

A homozygous mutation p.Arg2167Trp in FREM2 causes isolated cryptophthalmos

Author:

Yu Qian¹²,Lin Bingying¹,Xie Shangqian¹,Gao Song³,Li Wei¹⁴,Liu Yizhi¹,Wang Hongwei¹,Huang Danping¹,Xie Zhi¹

Affiliation:

1. State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou 510623, China

2. School of Life Sciences, Sun Yat-sen University, Guangzhou 510275, China

3. Sun Yat-sen University Cancer Center, Sun Yat-sen University, Guangzhou 510060, China

4. Retinal Neurobiology Section, National Eye Institute, US National Institutes of Health, Bethesda, MD 20892, USA

Funder

National Natural Science Foundation of China

Major Program of Science and Technology of Guangzhou

Publisher

Oxford University Press (OUP)

Subject

Genetics (clinical),Genetics,Molecular Biology,General Medicine

Link

Reference38 articles.

1. Eine Missgeburt mit hautueberwachsenen Augen oder Kryptophthalmus;Zehender;Klin. Monatsbl. Augenheilkd,1872

5. Syndrome malformatif avec cryptophtalmie;Francois;Acta Genet. Med. Gemellol. (Roma),1969

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