Aspect inhabituel de la picnodysostose: Pectus carinatum
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Références
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Rantakokko J, Aro HT, Savontaus M, Vuorio E. Mouse cathepsin K: cDNA cloning and predominant expression of the gene in osteoclasts, and in some hypertrophying chondrocytes during mouse development. FEBS Lett 1996; 393: 307-313.
Söderström M, Salminen H, Glumoff V, Kirschke H, Aro H, Vuorio E. Cathepsin expression during skeletal development. Biochim Biophys Acta 1999;1446:35-46.
Morko JP, Söderström M, Säämänen A-M K , Salminen HJ , Vuorio EI. Up regulation of cathepsin K expression in articular chondrocytes in a transgenic mouse model for osteoarthritis. Ann Rheum Dis 2004;63: 649-655.
Donnarumma M, Regis S, Tappino B, et al. Molecular Analysis and Characterization of Nine Novel CTSK Mutations in Twelve Patients Affected by Pycnodysostosis. Hum Mutat. 2007;28: 524 , DOI: 10.1002/humu.9490.
