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
Pathogenic and likely pathogenic genetic alterations and polymorphisms in growth hormone gene (GH1) and growth hormone releasing hormone receptor gene (GHRHR) in a cohort of isolated growth hormone deficient (IGHD) children in Sri Lanka.
Sundralingam T et al.
Growth Hormone & Igf Research : Official Journal of the Growth Hormone Research Society and the International Igf Research Society, 2017
Rescue of Isolated GH Deficiency Type II (IGHD II) via Pharmacologic Modulation of GH-1 Splicing.
Miletta MC et al.
Endocrinology, 2016
Isolated GH deficiency type II: knockdown of the harmful Delta3GH recovers wt-GH secretion in rat tumor pituitary cells.
Lochmatter D et al.
Endocrinology, 2010
Genetic screening of a Dutch population with isolated GH deficiency (IGHD).
de Graaff LC et al.
Clinical Endocrinology, 2009
Exon splice enhancer mutation (GH-E32A) causes autosomal dominant growth hormone deficiency.
Petkovic V et al.
The Journal of Clinical Endocrinology and Metabolism, 2007
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
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
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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