Novel mutations in PRG4 gene in two Indian families with camptodactyly-arthropathy- coxa vara- pericarditis (CACP) syndrome

BACKGROUND & OBJECTIVES: Camptodactyly – arthropathy- coxa vara- pericarditis (CACP) syndrome is an autosomal recessive disorder caused by mutations in the PRG4 (proteoglycan 4) gene. Hallmarks of the syndrome include congenital or early-onset camptodactyly and arthropathy with synovial hyperpla...

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Hauptverfasser: Nandagopalan, Rajashree S., Phadke, Shubha R., Dalal, Ashwin B., Ranganath, Prajnya
Format: Artigo
Sprache:Inglês
Veröffentlicht: Medknow Publications & Media Pvt Ltd 2014
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Original Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4216495/
https://ncbi.nlm.nih.gov/pubmed/25297354
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