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We expand the clinical phenotype of this disorder by including a much milder clinical and ultrastructural variant that may go undiagnosed in early life, and we review and summarize the current clinical data on human dermatosparaxis to provide the necessary foundation to update the clinical criteria

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[DOI] [PubMed] [Google Scholar] 59.He YL, Li J, Gong SH, Cheng X, Zhao M, Cao Y, et al

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The lipofuscin component A2E selectively inhibits phagolysosomal degradation of photoreceptor phospholipid by the retinal pigment epithelium