Identifier to cite or link to this item: http://hdl.handle.net/20.500.13003/17503
Hypocalcemia due to 22q11.2 deletion syndrome diagnosed in adulthood
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2018-01Document type
research articleCitation
Cabrer M, Serra G, Soledad Gogorza M, Pereg V. Hypocalcemia due to 22q11.2 deletion syndrome diagnosed in adulthood. Endocrinol Diabetes Metab Case Rep. 2018 Jan;:170140.Abstract
Chromosome 22q11.2 deletion syndrome (22q11.2DS) is a genetic syndrome that may present with hypocalcemia due to primary hypoparathyroidism (PH) at any age. We report a new diagnosis of 22q11.2DS in a 57-year-old man who presented with symptomatic hypocalcemia. It is important to consider genetic causes of hypocalcemia due to PH regardless of age.
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https://dx.doi.org/10.1530/EDM-17-0140This item appears in following Docusalut collections
Hospital Comarcal de Inca - HCIN > Comunicación científicaHospital Universitario Son Espases - HUSE > Comunicación científica