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Metachondromatosis

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Review Articles from PubMed

Review articles summarize what is currently known about a disease. They discuss research previously published by others. The terms "Metachondromatosis" returned 0 free, full-text review articles. First 0 results:
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Editorials from PubMed

Editorial articles describe the outcome of a single study. They are the published results of original research. The terms "Metachondromatosis" returned 0 free, full-text editorial articles. First 0 results:
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Research Articles from PubMed

Research articles describe the outcome of a single study. They are the published results of original research. The terms "Metachondromatosis" returned 4 free, full-text research articles. First few results:
A rare association of pathological variant of Alport's syndrome caused by hemizygous 5' splice mutation in intron 10 of COL4A5 gene with metachondromatosis due to heterozygous missense variation in protein tyrosine phosphatase nonreceptor type 11 gene.
Last Updated: Feb 10, 2020

Metachondromatosis is a rare disorder of autosomal inheritance with incomplete penetrance, which is characterized by formation of osteochondroma and enchondroma, caused by loss of function of the protein tyrosine phosphatase nonreceptor type 11 (PTPN11) gene. Diagnosis is made based ...

Multiple unexpected lesions of metachondromatosis detected by technetium-99m methylene diphosphonate SPECT/CT: A case report.
Last Updated: Nov 14, 2018

Metachondromatosis (MC) is a very rare genetic disease, which is infrequently reported worldwide, which leads to osteochondroma and enchondromatosis. The disease has been shown to be associated with loss of function of the tumor suppressor gene "protein tyrosine phosphatase, non-receptor ...

Chondrosarcoma in Metachondromatosis: A Rare Case Report.
Last Updated: Dec 02, 2018

Metachondromatosis which was first described in 1971 by Maroteaux is a rare genetic disease consisting of osteochondromas and enchondromas, caused by loss of function of the PTPN11 gene. It is distinct from other cartilaginous tumors such as multiple osteochondromas and hereditary ...

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