Pigmentary retinopathy with perivascular sparing in a SOFT syndrome patient with a novel homozygous splicing variant in POC1A gene
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DOI: 10.1080/13816810.2022.2103837
Abstract: ABSTRACT Purpose SOFT syndrome is an extremely rare inherited dwarfism syndrome. The syndrome has four major clinical manifestations: short stature, onychodysplasia, facial dysmorphism, and hypotrichosis. Herein, we report a unique case of a SOFT syndrome… read more here.
Keywords: syndrome patient; soft syndrome; retinopathy perivascular; pigmentary retinopathy ... See more keywords