在视网母细胞瘤中绘制RB1基因突变:对来自北印度的200例病例的研究

Ria Ratna1, Akhil Varshney2, Shailja Tibrewal1,3

  • 1Department of Ocular Genetics, Dr. Shroff's Charity Eye Hospital, New Delhi, India.

Ophthalmic genetics
|June 19, 2025
PubMed
概括

北印度对视网膜母细胞瘤 (RB) 的基因检测发现48%的患者患有RB1基因突变,主要是双边病例. 这突出了区域遗传模式,并为具有成本效益的诊断策略提供了信息.

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