<i>BEST1</i> novel mutation causes Bestrophinopathies in six families with distinct phenotypic diversity-Reference-Cited by-同舟云学术

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BEST1 novel mutation causes Bestrophinopathies in six families with distinct phenotypic diversity

Published:2022-11-15 Issue:1 Volume:11 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Molec Gen & Gen Med

Author:

Yang Shangying¹^ORCID,Li Zhen²,Cheng Wanyu¹,Ma Meijiao³,Qi Rui⁴,Rui Xue³,Ren Yinghua²,Sheng Xunlun³,Rong Weining²

Affiliation:

1. Clinical Medical College Ningxia Medical University Yinchuan China

2. Ningxia Eye Hospital, People's Hospital of Ningxia Hui Autonomous Region Third Clinical Medical College of Ningxia Medical University Yinchuan China

3. Gansu Aier Ophthalmiology and Optometry Hospital Lanzhou City China

4. Aier Eye Hospital Group Hubin Aier Eye Hospital Binzhou City China

Funder

National Natural Science Foundation of China

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.2095

Reference28 articles.

1. The spectrum of ocular phenotypes caused by mutations in the BEST1 gene

2. Autosomal Recessive Bestrophinopathy

3. Autosomal Recessive Bestrophinopathy

4. Adult-onset foveomacular vitelliform dystrophy: A fresh perspective

Cited by 1 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Multimodal imaging and genetic characteristics of autosomal recessive bestrophinopathy;Journal Français d'Ophtalmologie;2024-06

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