A novel frameshift variant in the <i>TSPAN12</i> gene causes autosomal dominant <scp>FEVR</scp>-Reference-Cited by-同舟云学术

A novel frameshift variant in the TSPAN12 gene causes autosomal dominant FEVR

Published:2022-04-13 Issue:6 Volume:10 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Molec Gen & Gen Med

Author:

Peng Li¹²^ORCID,Dai Erkuan³,Xiao Haodong³,Zhao Rulian¹,He Yunqi¹²,Li Shujin¹²⁴,Yang Mu¹²⁴,Yang Zhenglin¹²⁴,Zhao Peiquan³

Affiliation:

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

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

3. Department of Ophthalmology Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine Shanghai China

4. Research Unit for Blindness Prevention of Chinese Academy of Medical Sciences (2019RU026) Sichuan Academy of Medical Sciences Chengdu China

Funder

Chinese Academy of Medical Sciences

Department of Science and Technology of Sichuan Province

National Natural Science Foundation of China

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1949

Reference31 articles.

1. Familial exudative vitreoretinopathy with TGFBR2 mutation without signs of Loeys-Dietz syndrome

2. Familial Exudative Vitreoretinopathy

3. TCF / LEF dependent and independent transcriptional regulation of Wnt/β‐catenin target genes

4. Identification and functional analysis of novel FZD4 mutations in Han Chinese with familial exudative vitreoretinopathy

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