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Goutham Pyatla1,2, Meha Kabra1, Anil K Mandal3

  • 1Kallam Anji Reddy Molecular Genetics Laboratory, Prof. Brien Holden Eye Research Center, L.V. Prasad Eye Institute, Hyderabad 500034, Telangana, India.

概括

CEP164和INPP5E基因的罕见变异表明,在原发性先天性玻璃眼 (PCG) 病原发生过程中,纤毛中枢体功能障碍. 这些发现可能会导致PCG的新诊断和治疗策略.

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