Genetic and Clinical Characterization of Early-Onset High Myopia With or Without Cataract Due to Biallelic P3H2 Variants.

چکیده

Biallelic pathogenic variants in P3H2 have been established as a cause of autosomal-recessive early-onset high myopia (eoHM) with or without cataract. This study aimed to further delineate the genetic and clinical features of P3H2-associated eoHM in a large cohort. P3H2 variants were identified…

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موضوعات مرتبط

• نزدیک بینی
• کاتاراکت (آب مروارید)
• چشم پزشکی کودکان