An Insulin-Like Growth Factor-I Receptor Defect Associated with Short Stature and Impaired Carbohydrate Homeostasis in an Italian Pedigree

Background: Mutations in the insulin-like growth factor-I (IGF-I) receptor (IGF1R) have been associated with prenatal and postnatal growth retardation. However, little is known about potential effects of mutations in the IGF1R on carbohydrate homeostasis. Methods: We investigated clinical, endocrine...

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Veröffentlicht in:	Hormone research in paediatrics 2011-01, Vol.76 (2), p.136-143
Hauptverfasser:	Mohn, A., Marcovecchio, M.L., de Giorgis, T., Pfaeffle, R., Chiarelli, F., Kiess, W.
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Age Determination by Skeleton Birth Weight - genetics Carbohydrate Metabolism - genetics Child Child, Preschool Codon, Nonsense Female Fetal Growth Retardation - genetics Glucose Intolerance - genetics Humans Insulin Resistance - genetics Male Middle Aged Novel Insights from Clinical Practice Receptor, IGF Type 1 - genetics
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