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Article

A Novel GNAS Mutation in a Patient with Ia Pseudohypoparathyroidism (iPPSD2) Phenotype.

Genes - 26 Jan 2023

Gorbacheva Anna, Pogoda Tatyana, Bogdanov Viktor, Zakharova Victoriya, Salimkhanov Rustam, Eremkina Anna, Melnichenko Galina, Mokrysheva Natalia

Abstract excerpt

Pseudohypoparathyroidism (PHP) is a heterogeneous orphan disease characterized by multihormonal resistance and several phenotypic features. In some cases, PHP is caused by a mutation in the GNAS that encodes the alpha subunit of the G protein, one of the key transmitters of intracellular signals. A correlation between the genotype and phenotype of patients with GNAS mutations has not yet been described. This...

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PMID: 36833251
DOI: 10.3390/genes14020324
PMCID: PMC9956201

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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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