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

• Hoofdauteurs: Rafaela Nicolau (Auteur), Tiago Beirão (Auteur), Francisca Guimarães (Auteur), Francisca Aguiar (Auteur), Sara Ganhão (Auteur), Mariana Rodrigues (Auteur), Ana Grangeia (Auteur), Iva Brito (Auteur)
• Formaat: Boek
• Gepubliceerd in: BMC, 2023-05-01T00:00:00Z.
• Onderwerpen: article
• Online toegang: Connect to this object online.

Abstract Background Primary Hypertrophic Osteoarthropathy (PHO), also known as Touraine-Solente-Gole Syndrome, is a rare, multisystemic autosomal recessive disorder caused by pathogenic variants in the 15-hydroxyprostaglandin dehydrogenase (HPGD) or Solute Carrier Organic Anion Transporter Family Me...