Characterization of an activating R1353H insulin-like growth factor 1 receptor variant in a male with extreme tall height.

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Lin Y, van Duyvenvoorde HA, Liu H, Yang C, Warsito D, Yin C, Kant SG, Haglund F, Wit JM, Larsson O

Eur. J. Endocrinol. 179 (2) 85-95 [2018-08-00; online 2018-05-22]

The insulin-like growth factor1 receptor (IGF1R) is important in growth and development, and inactivating The The Our findings suggest that R1353H constitutes an activating

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NGI Stockholm (Genomics Applications) [Service]

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PubMed 29789409

DOI 10.1530/EJE-18-0176

Crossref 10.1530/EJE-18-0176

pii: EJE-18-0176