Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses.

Hereditary multiple exostoses (EXT; MIM 133700) is an autosomal dominant bone disorder characterized by the presence of multiple benign cartilage-capped tumors (exostoses). Besides suffering complications caused by the pressure of these exostoses on the surrounding tissues, EXT patients are at an in...

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Hlavní autoři: Wuyts, W, Van Hul, W, De Boulle, K, Hendrickx, J, Bakker, E, Vanhoenacker, F, Mollica, F, Lüdecke, H J, Sayli, B S, Pazzaglia, U E, Mortier, G, Hamel, B, Conrad, E U, Matsushita, M, Raskind, W H, Willems, P J
Médium: Artigo
Jazyk:Inglês
Vydáno: 1998
Témata:
Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1376901/
https://ncbi.nlm.nih.gov/pubmed/9463333
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