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Article

Pseudohypoparathyroidism type Ia and pseudo-pseudohypoparathyroidism: the growing spectrum of GNAS inactivating mutations.

Human mutation - 1 Mar 2013

Elli Francesca Marta, deSanctis Luisa, Ceoloni Barbara, Barbieri Anna Maria, Bordogna Paolo, Beck-Peccoz Paolo, Spada Anna, Mantovani Giovanna

Abstract excerpt

Pseudohypoparathyroidism (PHP) is a rare heterogeneous genetic disorder characterized by end-organ resistance to parathyroid hormone due to partial deficiency of the α subunit of the stimulatory G protein (Gsα), encoded by the GNAS gene. Heterozygous inactivating GNAS mutations lead to either PHP type Ia (PHP-Ia), when maternally inherited, or pseudo-pseudohypoparathroidism (PPHP), if paternally derived. Both...

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PMID: 23281139
DOI: 10.1002/humu.22265

Genes

GNAS

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Source receipt: pubmed, retrieved 7 Sept 2026.

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