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CPSF1 mutations are associated with early-onset high myopia and involved in retinal ganglion cell axon projection

25 Jan 2019

Abstract excerpt

High myopia is a severe form of nearsightedness, which can result in blindness due to its associated complications. While both genetic and environmental factors can cause high myopia, early-onset high myopia (eoHM), which is defined as high myopia that occurs before school age, is considered to be caused mainly by genetic variations, with minimal environmental involvement. Here we report six rare heterozygous...

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PMID: 30689892
DOI: 10.1093/hmg/ddz029

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