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Assessing the general population frequency of rare coding variants in the EXT1 and EXT2 genes previously implicated in Hereditary Multiple Exostoses
Hereditary multiple exostoses (HME) is a rare childhood-onset skeletal disease linked to mutations in exostosin glycosyltransferase 1 (EXT1) or 2 (EXT2). Patients are heterozygous for either an EXT1 or EXT2 mutation, and it is widely assumed that exostosis formation and associated defects, such as g...
Tallennettuna:
| Julkaisussa: | Bone |
|---|---|
| Päätekijät: | , , , , |
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
2016
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| Aiheet: | |
| Linkit: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5056851/ https://ncbi.nlm.nih.gov/pubmed/27616605 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.bone.2016.09.005 |
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