A novel mutation in the proteoglycan 4 gene causing CACP syndrome: two sisters report

BACKGROUND: Camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome, caused by biallelic pathogenic mutations in the proteoglycan 4 (PRG4) gene, is characterized by early-onset camptodactyly, noninflammatory arthropathy, coxa vara deformity, and rarely, pericardial effusion. This syndrome c...

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Detalles Bibliográficos
Autores principales: Bağrul, İlknur, Ceylaner, Serdar, Yildiz, Yasemin Tasci, Tuncez, Serife, Aydin, Elif Arslanoglu, Bağlan, Esra, Ozdel, Semanur, Bülbül, Mehmet
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9875468/
https://www.ncbi.nlm.nih.gov/pubmed/36694203
http://dx.doi.org/10.1186/s12969-023-00793-z

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