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Article

Autosomal-dominant pseudohypoparathyroidism type Ib is caused by different microdeletions within or upstream of the GNAS locus.

Annals of the New York Academy of Sciences - 1 Apr 2006

Jüppner Harald, Linglart Agnès, Fröhlich Leopold F, Bastepe Murat

Abstract excerpt

The term pseudohypoparathyroidism (PHP) refers to the different disorders that are caused by mutations within GNAS or upstream of this complex genetic locus. GNAS gives rise to several different transcripts, including Gsalpha (alpha-subunit of heterotrimeric stimulatory G protein), XLalphas (extra-large variant of Gsalpha), and several additional sense and antisense transcripts. The complexity of the GNAS locus...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to GTP-Binding Protein alpha Subunits, Gs

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Source

Identifiers

PMID: 16831926
DOI: 10.1196/annals.1346.029

Genes

GNAS
PTH
STX16

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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