Associated Papers
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
The New Genomics: What Molecular Databases Can Tell Us About Human Population Variation and Endocrine Disease.
Rotwein P
Endocrinology, 2017
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
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