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 clinical and genetic aspects of six individuals with GH1 variants and isolated growth hormone deficiency type II.
Huang X et al.
Frontiers in Endocrinology, 2024
39435354 (PubMed )
Supplement: Table1.docx
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
PLCz functional haplotypes modulating promoter transcriptional activity are associated with semen quality traits in Chinese Holstein bulls.
Pan Q et al.
Plos One, 2013
A novel splicing mutation in exon 4 (456G>A) of the GH1 gene in a patient with congenital isolated growth hormone deficiency.
Fofanova OV et al.
Hormones (athens, Greece), 0
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