医学
眼科
遗传学
突变
验光服务
内科学
生物
基因
作者
Amit V. Mishra,Rosanna Martens,Carolin Aizouki,Alina Radziwon,Ian M. MacDonald
标识
DOI:10.1080/13816810.2025.2450456
摘要
Background Pathogenic variants in KIF11, a kinesin family gene, cause MCLMR and FEVR. In MCLMR, chorioretinal atrophy is present in the majority of cases and can be a helpful diagnostic sign.
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