(Leber Congenital Amaurosis)

Stephen H Tsang1, Tarun Sharma2

  • 1Department of Ophthalmology, Columbia University, New York, NY, USA. sht2@cumc.columbia.edu.

概括

在CEP290或ICQB1的基因突变需要和神经评估. 早期评估有助于诊断尤伯特综合征或高级洛肯综合征.

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