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Kenny-Caffey syndrome

Pronunciation: ken'e kaf'e

Definition: a disorder characterized by intermittent hypocalcemia (associated with abnormalities in parathyroid hormone secretion) and bone and eye abnormalities; autosomal dominant and autosomal recessive forms exist, caused by mutation in the gene encoding tubulin-specific chaperone E on 1q.

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© Copyright 2017 Wolters Kluwer. All Rights Reserved. Review Date: Sep 19, 2016.