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Familial hypocalciuric hypercalcaemia type 3: AP2S1 missense mutation

A 45-year-old man was referred to endocrine for the evaluation of hypercalcaemia. The calcium was elevated, vitamin D was low with a normal parathyroid hormone. Dual-energy X-ray absorptiometry scan revealed osteoporosis at the lumbar spine and femoral neck. A 24-hour urine collection revealed low u...

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Dades bibliogràfiques
Publicat a:BMJ Case Rep
Autors principals: Kerut, Sarah, Kovvuru, Karthik Reddy, Yanes-Cardozo, Licy, Garla, Vishnu Vardhan
Format: Artigo
Idioma:Inglês
Publicat: BMJ Publishing Group 2020
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7654107/
https://ncbi.nlm.nih.gov/pubmed/33168530
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2020-236631
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