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
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
Expanding the spectrum of mutations in GH1 and GHRHR: genetic screening in a large cohort of patients with congenital isolated growth hormone deficiency.
Alatzoglou KS et al.
The Journal of Clinical Endocrinology and Metabolism, 2009
Select a paper to view details