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Article

CLEC3B is a novel causative gene for macular-retinal dystrophy.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jun 2022

Zhou Rong, Mawatari Go, Cai Xue-Bi, Shen Ren-Juan, Wang Ya-Han, Wang Ya-Ting, Guo Yi-Ming, Guo Fei-Yang, Yuan Jing, Pan Deng, Nao-I Nobuhisa, Jin Zi-Bing

Abstract excerpt

PURPOSE: Macular degeneration is the leading cause of blindness worldwide. In this study, we aimed to define a new subtype of macular-retinal dystrophy and its genetic predisposition in 5 families. METHODS: Exome sequencing was performed to determine the putative disease-causing genes in patients with inherited macular disorders confirmed through comprehensive ophthalmic examinations. To validate its functional...

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PMID: 35331648
DOI: 10.1016/j.gim.2022.02.012

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