Clinical and Molecular Features of a Chinese Cohort With Syndromic and Nonsyndromic Retinal Dystrophies Related to the CEP290 Gene-Reference-Cited by-同舟云学术

Clinical and Molecular Features of a Chinese Cohort With Syndromic and Nonsyndromic Retinal Dystrophies Related to the CEP290 Gene

Published:2023-04 Issue: Volume:248 Page:96-106
ISSN:0002-9394
Container-title:American Journal of Ophthalmology
language:en
Short-container-title:American Journal of Ophthalmology

Author:

Zhu Tian,Shen Yue,Sun Zixi,Han Xiaoxu,Wei Xing,Li Wuyi^ORCID,Lu Chao,Cheng Tingting,Zou Xuan,Li Hui,Cao Zongfu,Gao Huafang,Ma Xu,Luo Minna^ORCID,Sui Ruifang

Funder

National Natural Science Foundation of China

CAMS Innovation Fund for Medical Sciences

Publisher

Elsevier BV

Subject

Ophthalmology

Reference49 articles.

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2. Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients;Baux;Hum Mutat,2007

3. CEP290, a gene with many faces: mutation overview and presentation of CEP290base;Coppieters;Hum Mutat,2010

4. Abnormal respiratory cilia in non-syndromic Leber congenital amaurosis with CEP290 mutations;Papon;J Med Genet,2010

5. Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis;den Hollander;Am J Hum Genet,2006

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