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...

Description complète

Enregistré dans:
Détails bibliographiques
Auteurs principaux: Nandagopalan, Rajashree S., Phadke, Shubha R., Dalal, Ashwin B., Ranganath, Prajnya
Format: Artigo
Langue:Inglês
Publié: Medknow Publications & Media Pvt Ltd 2014
Sujets:
Original Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4216495/
https://ncbi.nlm.nih.gov/pubmed/25297354
Tags: Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!

Documents similaires