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pro vyhledávání: '"Maria Soledad Gogorza Perez"'
Autor:
Maria Cabrer Vidal, Guillermo Serra Soler, Marzena Wos, Maria Soledad Gogorza Perez, Inaki Arguelles Jimenez, Santiago Tofe Povedano, Elena Mena Ribas, Honorato Garcia Fernandez, Vicente Pereg Macazaga
Publikováno v:
Endocrine Abstracts.
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 hy