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Article

[Pseudopseudohypoparathyroidism and genomic imprinting].

Clinical calcium - 1 Aug 2007

Minagawa Masanori

Abstract excerpt

Pseudopseudohypoparathyroidism (PPHP) is caused by the paternally-derived mutation in the coding region of GNAS gene. The phenotype of PPHP is produced by the sum of both decreased Gsalpha protein in biallelically expressed tissues and other proteins or non-coding RNAs by mutated paternal-allele specific expression. It has been believed that the haploinsufficiency of Gsalpha in non-imprinted tissues is...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17660620
DOI: CliCa070812291233

Genes

GNAS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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