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Would elevated bone mineral density/T-score be enough to make a diagnosis of osteopetrosis?

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Mednet Member
Endocrinology · Boston University School of Medicine

You should not make the diagnosis of osteopetrosis based on a high bone density. There are several causes for high bone density including the autosomal recessive genetic disorder sclerostosis which is caused by mutations in the STOST gene which prevents the production of functional sclerostin.

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Would elevated bone mineral density/T-score be enough to make a diagnosis of osteopetrosis? | Mednet