Clinical and genetic analysis of pseudohypoparathyroidism complicated by hypokalemia: a case report and review of the literature

Clinical and genetic analysis of pseudohypoparathyroidism complicated by hypokalemia: a case report and review of the literature

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 patient diagnosed with P...

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Bibliographic Details
Main Authors: Shaohan Huang, Yingzi He, Xihua Lin, Shuiya Sun, Fenping Zheng
Format: Article
Language:English
Published: BMC 2022-04-01
Series:BMC Endocrine Disorders
Subjects:
Pseudohypoparathyroidism
GNAS abnormal methylation
Hypokalemia
Online Access:https://doi.org/10.1186/s12902-022-01011-9

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