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Article

Identification of a novel GNAS mutation in a case of pseudohypoparathyroidism type 1A with normocalcemia.

BMC medical genetics - 30 Jul 2018

Long Xiao-Dan, Xiong Jing, Mo Zhao-Hui, Dong Chang-Sheng, Jin Ping

Abstract excerpt

BACKGROUND: Pseudohypoparathyroidism type 1A (PHP1A) is a rare genetic disease primarily characterized by resistance to parathyroid hormone along with hormonal resistance and other features of Albright hereditary osteodystrophy (AHO). It is caused by heterozygous inactivating mutations in the maternal allele of the GNAS gene, which encodes the stimulatory G-protein alpha subunit (Gsα) and regulates production of...

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Source

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Identifiers

PMID: 30060753
DOI: 10.1186/s12881-018-0648-z
PMCID: PMC6065144

Genes

GNAS
PTH

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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