Novel compound heterozygous mutation in the POC1B gene underlie peripheral cone dystrophy in a Chinese family
Author:
Affiliation:
1. Department of Ophthalmology, Hainan Branch of Chinese PLA General Hospital, Sanya, Hainan Province, China
2. Department of Ophthalmology, Chinese PLA General Hospital, Beijing, China
Funder
Beijing Natural Science Foundation
Postdoctoral Science Foundation of China
Hainan Natural Science Foundation
Publisher
Informa UK Limited
Subject
Genetics (clinical),Ophthalmology,Pediatrics, Perinatology and Child Health
Link
https://www.tandfonline.com/doi/pdf/10.1080/13816810.2018.1430239
Reference16 articles.
1. Peripheral cone dystrophy*1A variant of cone dystrophy with predominant dysfunction in the peripheral cone system1
2. Peripheral cone dystrophy in an elderly man
3. Multimodal imaging of a case of peripheral cone dystrophy
4. Case of Unilateral Peripheral Cone Dysfunction
5. Two siblings with late-onset cone–rod dystrophy and no visible macular degeneration
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