Definitions of camurati-engelmann syndrome

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Definition of 'camurati-engelmann syndrome'

U.S. National Library of Medicine

1. camurati-engelmann syndrome
An autosomal dominant form of dysplasia that is characterized by progressive thickening of diaphyseal cortex of long bones. Mutations in the gene that encodes TRANSFORMING GROWTH FACTOR BETA1 are one cause of this disorder.

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