Associated Papers
A Novel Variant in an Intron Splicing Enhancer Associated with Familial Growth Hormone Deficiency.
Radovick S et al.
Hormone Research in Paediatrics, 2025
Genetic variations, clinical presentation and treatment outcome of isolated growth hormone deficiency type I and II: case series and review of the literature.
Li R et al.
Endocrine, 2025
Distribution and linkage disequilibrium analysis of polymorphisms of GH1 gene in different populations of pigs associated with body size.
Cheng Y et al.
Journal of Genetics, 2016
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
A novel GH1 mutation in a family with isolated growth hormone deficiency type II.
Gucev Z et al.
Hormone Research in Paediatrics, 2012
Genetic characterization of growth hormone deficiency and resistance: implications for treatment with recombinant growth hormone.
Baumann G
American Journal of Pharmacogenomics : Genomics-related Research in Drug Development and Clinical Practice, 2002
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