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
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
Screening a large pediatric cohort with GH deficiency for mutations in genes regulating pituitary development and GH secretion: Frequencies, phenotypes and growth outcomes.
Blum WF et al.
Ebiomedicine, 2018
GH-1 gene splicing mutations: molecular basis of hereditary isolated growth hormone deficiency in children.
Fofanova OV et al.
Bulletin of Experimental Biology and Medicine, 2006
Disruption of exon definition produces a dominant-negative growth hormone isoform that causes somatotroph death and IGHD II.
Ryther RC et al.
Human Genetics, 2003
A novel IVS2 -2A>T splicing mutation in the GH-1 gene in familial isolated growth hormone deficiency type II in the spectrum of other splicing mutations in the Russian population.
Fofanova OV et al.
The Journal of Clinical Endocrinology and Metabolism, 2003
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
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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