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Loss-of-function GHSR variants are associated with short stature and low IGF-I.
Punt LD, Kooijman S, Mutsters NJM, Yue K, van der Kaay DCM, van Tellingen V, Bakker-van Waarde WM, Boot AM, van den Akker ELT, van Boekholt AA, de Groote K, Kruijsen AR, van Nieuwaal-van Maren NHG, Woltering MC, Heijligers M, van der Heyden JC, Bannink EMN, Rinne T, Hannema SE, de Waal WJ, Delemarre LC, Rensen PCN, de Bruin C, van Duyvenvoorde HA, Visser JA, Delhanty PJD, Losekoot M, Wit JM, Joustra SD. Punt LD, et al. Among authors: yue k. J Clin Endocrinol Metab. 2025 Jan 9:dgaf010. doi: 10.1210/clinem/dgaf010. Online ahead of print. J Clin Endocrinol Metab. 2025. PMID: 39785833
568 results