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Article

[Different expression of the Asn264LysfsX35 mutation of the GNAS gene in a family with pseudohypoparathyroidism.].

Anales de pediatria (Barcelona, Spain : 2003) - 1 Feb 2011

de Arriba Muñoz A, Labarta Aizpún J I, Dehesa E Mayayo, Calvo M T, Pérez de Nanclares G, Ferrández-Longás A

Abstract excerpt

Pseudohypoparathyroidism (PHP) is a heterogeneous group of endocrine diseases characterised by hypocalcaemia, hyperphosphataemia and resistance to PTH. There are different forms of PHP. PHP-Ia is the most frequent form and shows multi-hormonal resistance, GNAS (Gs(α)) mutations and signs of Albright́s hereditary osteodystrophy (AHO). PseudoPHP (PPHP) have isolated AHO without hormonal resistance and it is also...

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Source

Identifiers

PMID: 21169072
DOI: 10.1016/j.anpedi.2010.09.024

Genes

GNAS
PTH

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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Evidence of hormone resistance in a pseudo-pseudohypoparathyroidism patient with a novel paternal mutation in GNAS.Semantic proximity Read ↗

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