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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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書誌詳細
主要な著者: Fisher, Thomas J., Williams, Nicole, Morris, Lloyd, Cundy, Peter J.
フォーマット: Artigo
言語:Inglês
出版事項: Springer Berlin Heidelberg 2013
主題:
オンライン・アクセス: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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