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Hereditary Multiple Exostoses: a review of clinical appearance and metabolic pattern

1 Jan 2016

Abstract excerpt

Hereditary multiple exostoses (HME) is an inherited genetic condition characterized by the presence of multiple exostoses (osteochondromas). MHE is a relatively rare autosomal dominant disorder, mainly caused by loss of function mutations in two genes: exostosin-1 (EXT1) and exostosin-2 (EXT2). These genes are linked to heparan sulfate (HS) synthesis, but the specific molecular mechanism leading to the disruption...

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PMID: 27920806
DOI: 10.11138/ccmbm/2016.13.2.110

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