Keyword
Hereditary multiple exostoses
| Definition | Protein which, if defective, causes hereditary multiple exostoses (EXT). It is an autosomal dominant disease characterized by the formation of cartilage-capped benign tumors (exostoses), developing from the juxtaepiphyseal regions of the long bones and often accompanied by skeletal deformities and short stature. |
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| Category |
› Disease
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| Graphical | 
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