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Article

Identification of a novel mutation in pseudohypoparathyroidism type Ia in a Chinese family: A case report.

Medicine - 22 May 2020

Tang Yuchen, Zheng Fenping, Lin Xihua, Pan Qianqian, Li Lin, Li Hong

Abstract excerpt

INTRODUCTION: Pseudohypoparathyroidism (PHP) indicates a group of rare disorders characterized by end-organ resistance to various hormones, primarily parathyroid hormone (PTH). One of its most common type is PHP-Ia, which is caused by maternally inherited inactivating mutations in GNAS. In this report, we present a Chinese girl with typical features of PHP-Ia and a novel mutation of the GNAS gene. PATIENT...

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Identifiers

PMID: 32481259
DOI: 10.1097/MD.0000000000019965
PMCID: PMC7249942

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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