Characterization of an Activating R1353H Insulin-like Growth Factor 1 Receptor Variant in a Male with Extreme Tall Height.

CONCLUSIONS: Our findings suggest that R1353H constitutes an activating IGF1R variant. The possible deregulation of collagen turnover and increased androgen sensitivity implicates an association to tall phenotype in male carriers.
PMID: 29789409 [PubMed - as supplied by publisher]

Source: European Journal of Endocrinology - May 22, 2018 Category: Endocrinology Authors: Lin Y, van Duyvenvoorde HA, Liu H, Yang C, Warsito D, Yin C, Kant SG, Haglund F, Wit JM, Larsson O Tags: Eur J Endocrinol Source Type: research