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Metachondromatosis: more than just multiple osteochondromas

INTRODUCTION: Metachondromatosis is a rare genetic disease of osteochondroma and enchondroma formation, caused by loss of function of the PTPN11 gene. It is distinct from other similar conditions such as multiple osteochondromas and hereditary multiple exostoses by the distribution and orientation o...

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Autori principali: Fisher, Thomas J., Williams, Nicole, Morris, Lloyd, Cundy, Peter J.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Springer Berlin Heidelberg 2013
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3886349/
https://ncbi.nlm.nih.gov/pubmed/24432109
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s11832-013-0526-3
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