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A Novel, Heterozygous, de novo Splicing Variant Affecting the Intracellular Domain of the Growth Hormone Receptor, and Causing a Mild Short Stature.

Hormone research in paediatrics - 1 Jan 2024

Giannakopoulos Aristeidis, Papanastasiou Anastasios D, Zarkadis Ioannis K, Andrew Shayne F, Rosenfeld Ron G, Efthymiadou Alexandra, Chrysis Dionisios, Hwa Vivian

Abstract excerpt

INTRODUCTION: Although the majority of growth hormone insensitivity syndrome (GHIS) cases are classical, the spectrum of clinical phenotypes has expanded to include "atypical" GHIS subjects with milder phenotypes due to very rare heterozygous growth hormone receptor (GHR) mutations with dominant negative effects. CASE PRESENTATION: A 13-year-old pubertal boy presented with short stature (-1.7 SDS) and delayed...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 37725936
DOI: 10.1159/000534183

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