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...

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Detalhes bibliográficos
Publicado no:Mol Genet Genomic Med
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2018
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Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5902402/
https://ncbi.nlm.nih.gov/pubmed/29397575
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.364
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