Reclassification of the HPGD p.Ala13Glu variant causing primary hypertrophic osteoarthropathy
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Here, we highlight the case of a 31-yr-old man who had clinical features of primary hypertrophic osteoarthropathy (PHOAR) and harbored a homozygous variant (c.38C > A, p.Ala13Glu) in the HPGD gene, as indicated by whole-exome sequencing (WES). This variant has... ...
