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...
Main Authors: | Rajashree S Nandagopalan, Shubha R Phadke, Ashwin B Dalal, Prajnya Ranganath |
---|---|
Format: | Article |
Language: | English |
Published: |
Wolters Kluwer Medknow Publications
2014-01-01
|
Series: | Indian Journal of Medical Research |
Subjects: | |
Online Access: | http://www.ijmr.org.in/article.asp?issn=0971-5916;year=2014;volume=140;issue=2;spage=221;epage=226;aulast=Nandagopalan |
Similar Items
-
Spinal involvement in Camptodactyly Arthropathy Coxa-vara Pericarditis (CACP) syndrome in two Yemeni sisters
by: Yasser Emad, et al.
Published: (2017-07-01) -
CACP syndrome (Camptodactyly Arthropathy Coxa Vara Pericarditis). Clinical case
by: Vrtíková E, et al.
Published: (2011-09-01) -
Quadruped Gait and Regulation of Apoptotic Factors in Tibiofemoral Joints following Intra-Articular rhPRG4 Injection in Prg4 Null Mice
by: Badger, G.J, et al.
Published: (2022) -
Quadruped Gait and Regulation of Apoptotic Factors in Tibiofemoral Joints following Intra-Articular rhPRG4 Injection in Prg4 Null Mice
by: Badger, G.J, et al.
Published: (2022) -
Pathognomonic acetabular cysts in camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome
by: Ravindranath Vutukuru, et al.
Published: (2016-01-01)