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Keyword - Hereditary multiple exostoses (KW-0361)

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.

Category

Disease

Graphical

Hereditary multiple exostosesDisease
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