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Article

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

Bone - 1 Feb 2015

Turan Serap, Thiele Susanne, Tafaj Olta, Brix Bettina, Atay Zeynep, Abali Saygin, Haliloglu Belma, Bereket Abdullah, Bastepe Murat

Abstract excerpt

CONTEXT: Loss-of-function GNAS mutations lead to hormone resistance and Albright's hereditary osteodystrophy (AHO) when maternally inherited, i.e. pseudohypoparathyroidism-Ia (PHPIa), but cause AHO alone when located on the paternal allele, i.e. pseudoPHP (PPHP). OBJECTIVE: We aimed to establish the molecular diagnosis in a patient with AHO and evidence of hormone resistance. CASE: The patient is a female who...

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Source

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Identifiers

PMID: 25464124
DOI: 10.1016/j.bone.2014.10.006
PMCID: PMC4273232

Genes

GNAS
PTH

Variants

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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