A Novel Mutation in the NDP Gene is Associated with Familial Exudative Vitreoretinopathy in a Southern Chinese Family-Reference-Cited by-同舟云学术

A Novel Mutation in the NDP Gene is Associated with Familial Exudative Vitreoretinopathy in a Southern Chinese Family

Published:2019-12-01 Issue:12 Volume:23 Page:850-856
ISSN:1945-0265
Container-title:Genetic Testing and Molecular Biomarkers
language:en
Short-container-title:Genetic Testing and Molecular Biomarkers

Author:

Bao Yun¹,Yang Jingmin²³⁴,Chen Lu⁵⁶,Chen Miaohong⁵⁶,Zhao Peiquan⁷,Qiu Shuiping⁵⁶,Zhang Lu⁴,Zhang Guoming⁵⁶

Affiliation:

1. Shanghai Center for Clinical Laboratory, Department of Molecular Biology, Shanghai, China.

2. NHC Key Laboratory of Birth Defects and Reproductive Health, Chongqing Population and Family Planning Science and Technology Research Institute, Chongqing, China.

3. State Key Laboratory of Genetic Engineering, School of Life Sciences, Fudan University, Shanghai, China.

4. Department of Genetic Counselling, Shanghai WeHealth BioMedical Technology Co.,Ltd., Shanghai, China.

5. Shenzhen Eye Hospital, Shenzhen, China.

6. Shenzhen Key Ophthalmic Laboratory, Health Science Center, Shenzhen University, The Second Affiliated Hospital of Jinan University, Shenzhen, China.

7. Department of Ophthalmology, Xinhua Hospital, Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai, China.

Publisher

Mary Ann Liebert Inc

Subject

Genetics(clinical),General Medicine

Link

https://www.liebertpub.com/doi/pdf/10.1089/gtmb.2019.0099

Reference24 articles.

1. Fluorescein Angiographic Findings in Familial Exudative Vitreoretinopathy

2. Structure and functional properties of Norrin mimic Wnt for signalling with Frizzled4, Lrp5/6, and proteoglycan

3. Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases

4. ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature

5. KIF11mutations are a common cause of autosomal dominant familial exudative vitreoretinopathy

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