Novel <i>ATF6</i> homozygous variant in a Chinese patient with achromatopsia-Reference-Cited by-同舟云学术

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Novel ATF6 homozygous variant in a Chinese patient with achromatopsia

Published:2024-02-29 Issue:2 Volume:45 Page:153-158
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Wu Shijing¹,Yu Yinhui¹,Wang Yao¹,Zhang Li¹,Fang Xiaoyun¹,Ye Panpan¹,Ma Jian¹

Affiliation:

1. Eye Center, The Second Affiliated Hospital, School of Medicine, Zhejiang Provincial Key Laboratory of Ophthalmology, Zhejiang Provincial Clinical Research Center for Eye Diseases, Zhejiang Provincial Engineering Institute on Eye Diseases, Zhejiang University, Hangzhou, Zhejiang, China

Funder

Natural Science Foundation of Zhejiang Province

Publisher

Informa UK Limited

Link

https://www.tandfonline.com/doi/pdf/10.1080/13816810.2024.2322643

Reference28 articles.

1. The cone dysfunction syndromes: Table 1

2. Achromatopsia: clinical features, molecular genetics, animal models and therapeutic options

3. The cone dysfunction syndromes

4. Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21

5. Total colourblindness is caused by mutations in the gene encoding the α-subunit of the cone photoreceptor cGMP-gated cation channel

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