scholarly journals An Intronic Growth Hormone Receptor Mutation Causing Activation of a Pseudoexon Is Associated with a Broad Spectrum of Growth Hormone Insensitivity Phenotypes

2006 ◽  
Vol 92 (2) ◽  
pp. 655-659 ◽  
Author(s):  
A. David ◽  
C. Camacho-Hübner ◽  
A. Bhangoo ◽  
S. J. Rose ◽  
F. Miraki-Moud ◽  
...  
Keyword(s):  
Growth Hormone ◽  
Broad Spectrum ◽  
Hormone Receptor ◽  
Growth Hormone Receptor ◽  
Growth Hormone Insensitivity

Three novel Growth Hormone Receptor (GHR) splicing mutations causing a spectrum of Growth Hormone Insensitivity

2019 ◽  
Author(s):  
Emily Cottrell ◽  
Avinaash Maharaj ◽  
Tasneem Ladha ◽  
Sumana Chatterjee ◽  
Anna Grandone ◽  
...  
Keyword(s):  
Growth Hormone ◽  
Hormone Receptor ◽  
Growth Hormone Receptor ◽  
Splicing Mutations ◽  
Growth Hormone Insensitivity

Partial growth-hormone insensitivity: The role of growth-hormone receptor mutations in idiopathic short stature

1997 ◽  
Vol 131 (1) ◽  
pp. S51-S55 ◽  
Author(s):  
Audrey D. Goddard ◽  
Patrick Dowd ◽  
Steven Chernausek ◽  
Mitchell Geffner ◽  
Joseph Gertner ◽  
...  
Keyword(s):  
Growth Hormone ◽  
Short Stature ◽  
Hormone Receptor ◽  
Growth Hormone Receptor ◽  
Idiopathic Short Stature ◽  
Growth Hormone Insensitivity

Laron syndrome – A case Report

JMS SKIMS ◽  
2017 ◽  
Vol 20 (2) ◽  
pp. 104-106
Author(s):  
Javaid Ahmad Bhat ◽  
Moomin Hussain Bhat ◽  
Hilal Bhat ◽  
Mona Sood ◽  
Shariq Rashid Masoodi
Keyword(s):  
Growth Hormone ◽  
Case Report ◽  
Hormone Receptor ◽  
Growth Hormone Receptor ◽  
Genetic Disorder ◽  
Female Child ◽  
Receptor Signaling ◽  
Laron Syndrome ◽  
Rare Genetic Disorder ◽  
Igf I

Background : Laron & colleagues (1966) reported a rare genetic disorder in Israliei Jewish sublings which was characterized by insensitivity to growth hormone due to abnormality in growth hormone receptor or post receptor signaling pathway.Case Report: We hereby report a case of a 5 year old female child who presented to us with features similar to Laron syndrome. The diagnosis was made & confirmed by various Lab. investigations like low IGF-I levels and managed accordingly. JMS 2017; 20 (2):104-106  

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