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Updated: May 22, 2025

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在SIX6中出现的新型组合异质合体变体会导致像光盘一样的PAX2,带有斑点异常,没有共存的微眼病或白内障

Karthikeyan Arcot Sadagopan1,2,3

  • 1Senior Consultant, Clinical Scientist and International Faculty, Pediatric Ophthalmology and Ocular Genetics, CMER (Shenzhen) Dennis Lam Hospital, Shenzhen, China.

Ophthalmic genetics
|March 14, 2025
PubMed
概括

在SIX6基因中的新型化合物异构基因变异会导致视盘发育不良和中国患者的斑点异常. 这一发现扩大了这些罕见的先天性眼睛疾病的已知遗传原因.

关键词:
在PAX2中,PAX2是PAX2.第六百六十六章 六六六在TULP1上.椎间盘发育不良 椎间盘发育不良叶细胞的低成形.

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