由于新的纯合 LAMA1 突变 , 患有 Poretti - Boltshauser 综合征的患者的高度近视和玻璃体面纱。
关键词: High myopia Poretti–Boltshauser syndrome autosomal recessive disorder cerebellar cysts retinal dystrophy
Mesh : Apraxias / congenital Cerebellar Ataxia Cogan Syndrome Humans Mutation Myopia / genetics Pedigree
来 源: DOI:10.1080/13816810.2022.2068045