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Article

Familial investigation of two cases of pseudohypoparathyroidism.

Frontiers in endocrinology - 1 Jan 2026

Yin Huihui, Liu Yuenan, Li Meixuan, Li Jiawen, Yu Yang, Du Jianling, Zhou Haicheng, Men Lili

Abstract excerpt

Object: To report the clinical and genetic characteristics of patients diagnosed with pseudohypoparathyroidism (PHP) or inactivating parathyroid hormone (PTH)/PTHrP signaling disorders (iPPSD), and to provide insights for the diagnosis and management of this rare inherited metabolic disorder. Methods: This study focused on two patients diagnosed with PHP or iPPSD, aiming to investigate their clinical and genetic...

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Identifiers

PMID: 42238246
DOI: 10.3389/fendo.2026.1800965
PMCID: PMC13226154

Genes

PTH
GNAS

Provenance

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