New recessive compound heterozygous variants of RP1L1 in RP1L1 maculopathy

AIM: To identify a maculopathy patient caused by new recessive compound heterozygous variants in RP1L1. METHODS: Comprehensive retinal morphological and functional examinations were evaluated for the patient with RP1L1 maculopathy. Targeted sequence capture array technique was used to screen potenti...

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Hlavní autoři:	Wen-Chao Cao, Qing-Shan Chen, Run Gan, Tao Huang, Xiao-He Yan
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Press of International Journal of Ophthalmology (IJO PRESS) 2024-01-01
Edice:	International Journal of Ophthalmology
Témata:	maculopathy recessive compound heterozygous variants rp1l1
On-line přístup:	http://ies.ijo.cn/en_publish/2024/1/20240114.pdf
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