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Article

Three-generation familial transmission of a GNAS variant: from gestational phenotype in the mother to evolving prenatal/neonatal phenotype in the offspring.

Hormones (Athens, Greece) - 1 Mar 2026

Demertzidou Eleftheria, Ververi Athina, Tournis Symeon, Kaprara Athina, Tsametis Christos, Christoforidis Athanasios, Kotsios Ioannis, Sterpi Magdalini, Balanika Alexia, Goulis Dimitrios G, Sotiriadis Alexandros

Abstract excerpt

BACKGROUND: Disorders caused by GNAS gene variants, including pseudohypoparathyroidism (PHP) types 1a, 1b and 1c, and pseudo-pseudohypoparathyroidism (PPHP), present with complex imprinting and phenotypic variability. The gene's parent-of-origin expression pattern results in diverse clinical manifestations. CASE PRESENTATION: We report a three-generation family harboring a heterozygous missense variant in GNAS...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 41222894
DOI: 10.1007/s42000-025-00731-6

Genes

GNAS
PTH

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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