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Article

Different mutations within or upstream of the GNAS locus cause distinct forms of pseudohypoparathyroidism.

Journal of pediatric endocrinology & metabolism : JPEM - 1 May 2006

Jüppner Harald, Bastepe Murat

Abstract excerpt

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

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 16789629
DOI: 10.1515/jpem.2006.19.s2.641

Genes

GNAS
PTH
STX16

Provenance

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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