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Article

New mechanisms involved in paternal 20q disomy associated with pseudohypoparathyroidism.

European journal of endocrinology - 1 Dec 2010

Fernández-Rebollo Eduardo, Lecumberri Beatriz, Garin Intza, Arroyo Javier, Bernal-Chico Ana, Goñi Fernando, Orduña Rosa, Castaño Luis, de Nanclares Guiomar Pérez

Abstract excerpt

PURPOSE: Type I pseudohypoparathyroidism (PHP-I) can be subclassified into Ia and Ib, depending on the presence or absence of Albright's hereditary osteodystrophy's phenotype, diminished α-subunit of the stimulatory G protein (G(s)α) activity and multihormonal resistance. Whereas PHP-Ia is mainly associated with heterozygous inactivating mutations in G(s)α-coding exons of GNAS, PHP-Ib is caused by imprinting...

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Source

Identifiers

PMID: 20837711
DOI: 10.1530/EJE-10-0435

Genes

GNAS

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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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