Atypical presentation of pseudohypoparathyroidism with absence of mutations in the GNAS gene: a case report

Atypical presentation of pseudohypoparathyroidism with absence of mutations in the GNAS gene: a case report

Abstract Background This case report aimed to broaden the understanding of pseudohypoparathyroidism (PHP) manifestations when typical mutations in the GNAS gene are absent. The clinical, biochemical, and genetic investigations of a PHP case revealed diagnostic challenges and emphasized the importanc...

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Bibliographic Details
Main Authors: Tao Wen, Qian Liu, Xiangfa Liu, Rongjiao You, Xingyue Li, Rongxuan Li, Lixi Tan, Jing Cheng, Mingfan Hong, Zhongxing Peng
Format: Article
Language:English
Published: BMC 2025-04-01
Series:BMC Endocrine Disorders
Subjects:
Pseudohypoparathyroidism
Parathyroid hormone resistance
GNAS gene
GHSR gene
Case report
Online Access:https://doi.org/10.1186/s12902-025-01933-0
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https://doi.org/10.1186/s12902-025-01933-0

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