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skos:definition |
MSH: FIBROUS DYSPLASIA OF BONE affecting several bones. When melanotic pigmentation (CAFE-AU-LAIT SPOTS) and multiple endocrine hyperfunction are additionally associated it is referred to as Albright syndrome.,NCI: A genetic syndrome caused by mutations in the GNAS1 gene. It is characterized by deformities and fractures of the bones, endocrine abnormalities including early puberty, and skin hyperpigmentation.
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