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Updated: Mar 12, 2026

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在INTS11相关的神经发育障碍中表征独特的视网膜表型.

Siying Lin1,2,3,4, Wendy D Tan5, Anthony G Robson3,4

  • 1Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, United Kingdom.

Investigative ophthalmology & visual science
|March 11, 2026
PubMed
概括

这项研究详细介绍了INTS11相关的神经发育障碍中独特的视网膜表型,其特征是视网膜内部变薄. 这些发现扩大了这种疾病的已知遗传和临床谱.

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At the molecular level, visual signals trigger transformations in photopigment molecules, resulting in changes in the photoreceptor cell's membrane potential. The photon's energy level is denoted by its wavelength, with each specific wavelength of visible light associated with a distinct color. The spectral range of visible light, classified as electromagnetic radiation, spans from 380 to 720 nm. Electromagnetic radiation wavelengths exceeding 720 nm fall under the infrared category,...
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