Severe foveal hypoplasia and macular degeneration in Stickler syndrome caused by missense mutation in COL2A1 gene
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DOI: 10.1080/13816810.2022.2068044
Abstract: ABSTRACT Background The aim is to determine the retinal changes in patients with Stickler syndrome caused by a p.R565C missense mutation of the COL2A1 gene. Methods We reviewed the clinical records of 10 eyes of… read more here.
Keywords: degeneration; syndrome caused; missense mutation; mutation col2a1 ... See more keywords