Expanding the phenotypic and genotypic spectrum of patients with HGSNAT -related retinopathy.

Ophthalmic genetics(2023)

引用 0|浏览4
暂无评分
摘要
HGSNAT has high phenotypic heterogeneity. Data from our cohort showed that all patients who had at least one variant of c.1843 G>A (p.Ala615Thr) presented with the onset of ocular symptoms after the fourth decade of life. The two patients with onset of ocular symptoms before the fourth decade did not carry this variant. This may suggest that c.1843 G>A variant is associated with a later onset of retinopathy.
更多
查看译文
AI 理解论文
溯源树
样例
生成溯源树,研究论文发展脉络