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Updated: Jan 6, 2026

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EGFLAM病原型变种和先天性静止性夜盲症

Sanja Boranijasevic1, Vasily Smirnov1,2,3, Julien Navarro1

  • 1Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France.

JAMA ophthalmology
|December 4, 2025
PubMed
概括

EGFLAM基因中的遗传变异导致先天性静止夜盲 (CSNB),这是一种罕见的遗传视网膜疾病. 这一发现有助于诊断CSNB,并开发未来的治疗方法.

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