ISSN 1662-4009 (online)

ey0016.4-4 | Important for Clinical Practice | ESPEYB16

4.4. Phenotypic features and response to growth hormone treatment of patients with a molecular defect of the IGF-1 receptor

MJE Walenkamp , JML Robers , JM Wit , GRJ Zandwijken , HA van Duyvenvoorde , W Oostdijk , ACS Hokken-Koelega , SG Kant , M Losekoot

To read the full abstract: J Clin Endocrinol Metab. 2019; 104(8): 3157–3171.The IGF receptor gene IGF1R is located at 15q26.3 locus and encodes for a tyrosine kinase receptor which mediates the IGF-I biological actions. The key role of IGF-IR in growth and development was proved in IGF1R null mice that had severely impaired prenatal growth and invariably died at birth ...