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

@article{Beltrami2016HereditaryME,
  title={Hereditary Multiple Exostoses: a review of clinical appearance and metabolic pattern.},
  author={Giovanni Beltrami and Gabriele Ristori and Guido Scoccianti and Angela Tamburini and Rodolfo Capanna},
  journal={Clinical cases in mineral and bone metabolism : the official journal of the Italian Society of Osteoporosis, Mineral Metabolism, and Skeletal Diseases},
  year={2016},
  volume={13 2},
  pages={110-118}
}
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 of the cartilage structure and the consequent exostoses formation is still not… CONTINUE READING

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