Neonatal Complete Generalized Glucocorticoid Resistance and Growth Hormone Deficiency Caused by a Novel Homozygous Mutation in Helix 12 of the Ligand Binding Domain of the Glucocorticoid Receptor Gene (NR3C1)

2010 ◽  
Vol 2010 ◽  
pp. 373-374
Author(s):  
E. Eugster
Keyword(s):  
Growth Hormone ◽  
Glucocorticoid Receptor ◽  
Ligand Binding ◽  
Growth Hormone Deficiency ◽  
Receptor Gene ◽  
Glucocorticoid Resistance ◽  
Hormone Deficiency ◽  
Homozygous Mutation ◽  
Glucocorticoid Receptor Gene ◽  
Helix 12

scholarly journals Longevity in Untreated Congenital Growth Hormone Deficiency Due to a Homozygous Mutation in the GHRH Receptor Gene

2010 ◽  
Vol 95 (2) ◽  
pp. 714-721 ◽  
Author(s):  
Manuel H. Aguiar-Oliveira ◽  
Francielle T. Oliveira ◽  
Rossana M. C. Pereira ◽  
Carla R. P. Oliveira ◽  
Amanda Blackford ◽  
...  
Keyword(s):  
Growth Hormone ◽  
Growth Hormone Deficiency ◽  
Receptor Gene ◽  
Hormone Deficiency ◽  
Homozygous Mutation ◽  
Ghrh Receptor

Lack of association between five polymorphisms in the human glucocorticoid receptor gene and glucocorticoid resistance

1997 ◽  
Vol 99 (5) ◽  
pp. 663-668 ◽  
Author(s):  
J. W. Koper ◽  
Ronald P. Stolk ◽  
Pieter de Lange ◽  
Nannette A. T. M. Huizenga ◽  
Gerd-Jan Molijn ◽  
...  
Keyword(s):  
Glucocorticoid Receptor ◽  
Receptor Gene ◽  
Glucocorticoid Resistance ◽  
Glucocorticoid Receptor Gene
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