Barakat syndrome diagnosed decades after initial presentation

Barakat syndrome, also called HDR syndrome, is a rare genetic disorder encompassing hypoparathyroidism (H), sensorineural deafness (D) and renal disease (R). A 64-year-old woman was referred to our endocrinology clinic for a switch in treatment (from dihydrotachysterol to calcitriol). She had progre...

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Bibliographic Details
Main Authors: Umberto Spennato, Jennifer Siegwart, Britta Hartmann, Elisabeth Julia Fischer, Cecilia Bracco, Joel Capraro, Beat Mueller, Philipp Schuetz, Andreas Werner Jehle, Tristan Struja
Format: Article
Language:English
Published: Bioscientifica 2023-12-01
Series:Endocrinology, Diabetes & Metabolism Case Reports
Online Access:https://edm.bioscientifica.com/view/journals/edm/2023/4/EDM23-0018.xml