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Published in 2022 at "BMC Endocrine Disorders"
DOI: 10.1186/s12902-022-01011-9
Abstract: Background Pseudohypoparathyroidism (PHP) encompasses a highly heterogenous group of disorders, characterized by parathyroid hormone (PTH) resistance caused by mutations in the GNAS gene or other upstream targets. Here, we investigate the characteristics of a female…
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Keywords:
clinical genetic;
complicated hypokalemia;
case;
mutations gnas ... See more keywords