Growth Hormone (GH) Insensitivity Syndrome with High Serum GH-Binding Protein Levels Caused by a Heterozygous Splice Site Mutation of the GH Receptor Gene Producing a Lack of Intracellular Domain
Author:
Publisher
The Endocrine Society
Subject
Biochemistry, medical,Clinical Biochemistry,Endocrinology,Biochemistry,Endocrinology, Diabetes and Metabolism
Cited by 118 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. 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;2023-09-19
2. Reporting a novel growth hormone receptor gene variant in an Iranian consanguineous pedigree with Laron syndrome: a case report;BMC Endocrine Disorders;2023-07-20
3. Congenital IGF-1 deficiency protects from cancer: lessons from Laron syndrome;Endocrine-Related Cancer;2023-06-21
4. Characterization of dominant-negative growth hormone receptor variants reveals a potential therapeutic target for short stature;European Journal of Endocrinology;2023-03-21
5. Short stature related to Growth Hormone Insensitivity (GHI) in childhood;Frontiers in Endocrinology;2023-03-15
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