Work

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

Year: 2023

Type: article

Study design: Case Report

Source: Hormone Research in Paediatrics

DOI: 10.1159/000534183

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

Institutions: University of Patras, Cincinnati Children's Hospital Medical Center, University of Cincinnati

Language: English

Topic: Growth Hormone and Insulin-like Growth Factors

Subfield: Endocrinology, Diabetes and Metabolism

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: closed

OpenAlex ID: W4386878821

FWCI:

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Related to: 10