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  1. No Access

    Article

    Analysis of Phenotypes Associated with Deficiency of PAX6 Haplotypes in Chinese Aniridia Families

    To examine the clinical phenotype and genetic deficiencies present in Chinese aniridia families with PAX6 haplotype deficiency.

    **ao-lu Hao, Ran Chen, Wei Liu, Bao-ke Hou, Ling-hui Qu… in Current Medical Science (2024)

  2. No Access

    Article

    Detection of Novel BEST1 Variations in Autosomal Recessive Bestrophinopathy Using Third-generation Sequencing

    Autosomal recessive bestrophinopathy (ARB), a retinal degenerative disease, is characterized by central visual loss, yellowish multifocal diffuse subretinal deposits, and a dramatic decrease in the light peak ...

    Jia-xun Li, Ling-rui Meng, Bao-ke Hou, **ao-lu Hao… in Current Medical Science (2024)