Associated Papers
<italic>IGF1</italic> Haploinsufficiency: Phenotype and Response to Growth Hormone Treatment in 9 Patients.
Joustra SD et al.
Hormone Research in Paediatrics, 2025
Identification of a novel heterozygous IGF1 splicing mutation in a large kindred with familial short stature.
Fuqua JS et al.
Hormone Research in Paediatrics, 2012
The severe short stature in two siblings with a heterozygous IGF1 mutation is not caused by a dominant negative effect of the putative truncated protein.
van Duyvenvoorde HA et al.
Growth Hormone & Igf Research : Official Journal of the Growth Hormone Research Society and the International Igf Research Society, 2011
Short stature associated with a novel heterozygous mutation in the insulin-like growth factor 1 gene.
van Duyvenvoorde HA et al.
The Journal of Clinical Endocrinology and Metabolism, 2010
Select a paper to view details