Identification of Two Novel Variants in the <i>LRP5</i> Gene that Cause Familial Exudative Vitreoretinopathy-Reference-Cited by-全球学者库

Identification of Two Novel Variants in the LRP5 Gene that Cause Familial Exudative Vitreoretinopathy

Published:2022-03-01 Issue:3 Volume:26 Page:146-151
ISSN:1945-0265
Container-title:Genetic Testing and Molecular Biomarkers
language:en
Short-container-title:Genetic Testing and Molecular Biomarkers

Author:

Wang Yuze¹²,Zhao Rulian¹²,Dai Erkuan³,Peng Li¹²⁴,He Yunqi¹²⁴,Yang Mu¹²⁴^ORCID,Li Shujin¹²⁴^ORCID

Affiliation:

1. Sichuan Provincial Key Laboratory for Human Disease Gene Study, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, China.

2. Research Unit for Blindness Prevention of Chinese Academy of Medical Sciences (2019RU026), Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, Chengdu, China.

3. Ophthalmology, Shanghai Jiaotong University School of Medicine Xinhua Hospital, Shanghai, China.

4. Natural Products Research Center, Institute of Chengdu Biology, Sichuan Translational Medicine Hospital, Chinese Academy of Sciences, Chengdu, China.

Publisher

Mary Ann Liebert Inc

Subject

Genetics (clinical),General Medicine

Link

https://www.liebertpub.com/doi/pdf/10.1089/gtmb.2021.0223

Reference33 articles.

1. Structural Basis of Wnt Signaling Inhibition by Dickkopf Binding to LRP5/6

2. Whole-Exome Sequencing Reveals Novel TSPAN12 Variants in Autosomal Dominant Familial Exudative Vitreoretinopathy

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

4. Familial Exudative Vitreoretinopathy

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