Clinical and biochemical consequences of an intragenic growth hormone receptor (GHR) deletion in a large Chinese pedigree-Reference-Cited by-同舟云学术

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Clinical and biochemical consequences of an intragenic growth hormone receptor (GHR) deletion in a large Chinese pedigree

Published:2014-10-20 Issue:3 Volume:82 Page:453-461
ISSN:0300-0664
Container-title:Clinical Endocrinology
language:en
Short-container-title:Clin Endocrinol

Author:

Klammt Jürgen¹,Shen Shuixian²,Kiess Wieland¹,Kratzsch Jürgen³,Stobbe Heike¹,Vogel Mandy⁴,Luo Feihong²,Pfäffle Roland¹

Affiliation:

1. Centre for Paediatric Research; University Hospital for Children and Adolescents; Leipzig Germany

2. Deparment of Pediatric Endocrinology and Inborn Metabolic Diseases; Children's Hospital of Fudan University; Shanghai China

3. Institute of Laboratory Medicine, Clinical Chemistry and Laboratory Diagnostics; University of Leipzig; Leipzig Germany

4. LIFE Leipzig Research Centre for Civilization Diseases; University of Leipzig; Leipzig Germany

Publisher

Wiley

Subject

Endocrinology, Diabetes and Metabolism,Endocrinology

Reference31 articles.

1. Endocrine assessment, molecular characterization and treatment of growth hormone insensitivity disorders;Savage;Nature Clinical Practice Endocrinology & Metabolism,2006

2. Evidence for a continuum of genetic, phenotypic, and biochemical abnormalities in children with growth hormone insensitivity;David;Endocrine Reviews,2011

3. Molecular mechanisms of IGF-I deficiency;Rosenfeld;Hormone Research,2006

4. Extreme elevation of serum growth hormone-binding protein concentrations resulting from a novel heterozygous splice site mutation of the growth hormone receptor gene;Aalbers;Hormone Research,2009

5. Identification and characterisation of a novel GHR defect disrupting the polypyrimidine tract and resulting in GH insensitivity;David;European Journal of Endocrinology,2010

Cited by 6 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. 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

2. Identification and In Vitro Functional Verification of Two Novel Mutations of GHR Gene in the Chinese Children with Laron Syndrome;Frontiers in Endocrinology;2021-04-12

3. Severe growth failure associated with a novel heterozygous nonsense mutation in the GHR transmembrane domain leading to elevated growth hormone binding protein;Clinical Endocrinology;2020-01-22

4. Growth Hormone Receptor Mutations Related to Individual Dwarfism;International Journal of Molecular Sciences;2018-05-10

5. Compound heterozygosity for two GHR missense mutations in a patient affected by Laron Syndrome: a case report;Italian Journal of Pediatrics;2017-10-12

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