Article

Touraine-Solente-Gole syndrome: pathogenic variant in SLCO2A1 presented with polyarthralgia and digital clubbing

2023-04-10

Abstract excerpt

<title>Abstract</title> <p><bold>Background</bold>: Primary Hypertrophic Osteoarthropathy (PHO), also known as Touraine-Solente-Gole Syndrome, is a rare, multisystemic autosomal recessive disorder caused by pathogenic variants in the HPGD or SLCO2A1 genes. However, autosomal dominant transmission has also been described in some families with incomplete penetrance. PHO usually starts in childhood or adolescence, p...

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Literature Corpus work: e630b7b7-0373-5264-ae2d-ecbb739e9808
DOI: 10.21203/rs.3.rs-2722884/v1

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