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Article

Phenotype-Genotype Correlations of GH1 Gene Variants in Patients with Isolated Growth Hormone Deficiency or Multiple Pituitary Hormone Deficiency.

Hormone research in paediatrics - 1 Jan 2024

Öztürk Ayşe Pınar, Yavas Abali Zehra, Aslanger Ayça Dilruba, Bas Firdevs, Toksoy Güven, Karaman Volkan, Bagirova Gulandam, Poyrazoglu Sukran, Uyguner Zehra Oya, Darendeliler Feyza

Abstract excerpt

INTRODUCTION: Genetic forms of growth hormone deficiency (GHD) may occur as isolated GHD (IGHD) or as a component of multiple pituitary hormone deficiency (MPHD). This study aimed to present the clinical and molecular characteristics of patients with IGHD/MPHD due to the GH1 gene variants. METHODS: A gene panel accommodating 25 genes associated with MPHD and short stature was used to search for small sequence...

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Identifiers

PMID: 37315542
DOI: 10.1159/000531113
PMCID: PMC11126197

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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