Unusual feature of pycnodysostosis: Pectus carinatum

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Published Apr 7, 2014
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Vol. 92 No. 2 (2014): Issue Feb 2014

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Tinsa Faten
Hamouda Samia
Bellalah Manel
Bousnina Dorra
Karboul Lotfi
Boussetta Khadija
Bousnina Souad

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References

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  2. 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.
  3. Söderström M, Salminen H, Glumoff V, Kirschke H, Aro H, Vuorio E. Cathepsin expression during skeletal development. Biochim Biophys Acta 1999;1446:35-46.
  4. 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.
  5. 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.