UNEXPECTED HYPERPARATHYROIDISM IN A PATIENT WITH ACRODYSOSTOSIS

OBJECTIVE: Acrodysostosis is a rare skeletal dysplasia with one gene mutation associated with pseudohypoparathyroidism. We describe a 15-year-old male patient with genetic acrodysostosis who presented with hyperparathyroidism. METHODS: Laboratory testing, including genetic testing for acrodysostosis...

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Publicat a:AACE Clin Case Rep
Autors principals: Hiers, Paul S., Rohrs, Henry J.
Format: Artigo
Idioma:Inglês
Publicat: American Association of Clinical Endocrinologists 2020
Matèries:
Case Reports
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7685412/
https://ncbi.nlm.nih.gov/pubmed/33244495
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4158/ACCR-2020-0103
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