Clinical Exome Sequencing Study in a Cohort of Growth Hormone-Secreting Pituitary Adenomas.

doi:10.2174/0118715303407614251204235803

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Article

Clinical Exome Sequencing Study in a Cohort of Growth Hormone-Secreting Pituitary Adenomas.

Endocrine, metabolic & immune disorders drug targets - 1 Jan 2026

Costanza Flavia, Scaglione Giovanni Luca, Russo Filippo, Nardelli Carmela, Gessi Marco, Giampietro Antonella, Mattogno Pier Paolo, Rigante Mario, Lauretti Liverana, Rindi Guido, De Marinis Laura, Bianchi Antonio, Chiloiro Sabrina, Doglietto Francesco, Capoluongo Ettore Domenico, Pontecorvi Alfredo

Abstract excerpt

INTRODUCTION: Genetic mutations have been reported in patients with acromegaly, potentially influencing clinical phenotype, tumor invasiveness, and prognosis. The genetic and molecular landscape of patients with acromegaly has been partially explored. Therefore, this study aimed to investigate germline genetic variants in patients with acromegaly through clinical exome sequencing (CES) analysis and to explore a...

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Topics

Humans
Growth Hormone-Secreting Pituitary Adenoma
Female
Male
Exome Sequencing

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Adult

Adenoma

Middle Aged

Retrospective Studies

Acromegaly

Cohort Studies

Genetic Predisposition to Disease

Germ-Line Mutation

Aged

Source

Open in PubMed

Identifiers

PMID: 42381139
DOI: 10.2174/0118715303407614251204235803

Genes

KCNJ12

Variants

rs5021699

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 24 Oct 2026.

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