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

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 Member 2A1...

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Detalles Bibliográficos
Autores principales: Nicolau, Rafaela, Beirão, Tiago, Guimarães, Francisca, Aguiar, Francisca, Ganhão, Sara, Rodrigues, Mariana, Grangeia, Ana, Brito, Iva
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10207785/
https://www.ncbi.nlm.nih.gov/pubmed/37226222
http://dx.doi.org/10.1186/s12969-023-00831-w

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10207785/
https://www.ncbi.nlm.nih.gov/pubmed/37226222
http://dx.doi.org/10.1186/s12969-023-00831-w

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