Genotype–phenotype investigation of 35 patients from 11 unrelated families with camptodactyly–arthropathy–coxa vara–pericarditis (CACP) syndrome

BACKGROUND: The camptodactyly–arthropathy–coxa vara–pericarditis syndrome (CACP) is a rare autosomal recessive condition characterized by camptodactyly, noninflammatory arthropathy, coxa vara, and pericarditis. CACP is caused by mutations in the proteoglycan 4 (PRG4) gene, which encodes a lubricatin...

Descripción completa

Detalles Bibliográficos
Autores principales: Yilmaz, Saliha, Uludağ Alkaya, Dilek, Kasapçopur, Özgür, Barut, Kenan, Akdemir, Ekin S., Celen, Cemre, Youngblood, Mark W., Yasuno, Katsuhito, Bilguvar, Kaya, Günel, Murat, Tüysüz, Beyhan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5902402/
https://www.ncbi.nlm.nih.gov/pubmed/29397575
http://dx.doi.org/10.1002/mgg3.364

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5902402/
https://www.ncbi.nlm.nih.gov/pubmed/29397575
http://dx.doi.org/10.1002/mgg3.364

Ejemplares similares