Genotype and clinical phenotype analysis of lipoid proteinosis patients with pathogenic variants in ECM1 gene 
Chang Haoyu, Xu Ke, Xie Yue, Shi Jie, Zhang Xin, Tian Lu, Li Yang
Ophthalmology in China . 2021, (5): 374 -378 .  DOI: 10.13281/j.cnki.issn.1004-4469.2021.05.009