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Loss-of-function GHSR Variants Are Associated with Short Stature and Low IGF-I

Lauren D. Punt,Sander Kooijman, Noa J. M. Mutsters, Kaiming Yue,Danielle C. M. van der Kaay,Vera van Tellingen,Willie M. Bakker-van Waarde, Annemiek M. Boot,Erica L. T. van den Akker, Anneke A. van Boekholt, Kirsten de Groote, Anne R. Kruijsen, Nancy H. G. van Nieuwaal-van Maren, M. Claire Woltering, Malou Heijligers, Josine C. van der Heyden,Ellen M. N. Bannink, Tuula Rinne,Sabine E. Hannema, Wouter J. de Waal, Lucia C. Delemarre,Patrick C. N. Rensen,Christiaan de Bruin,Hermine A. van Duyvenvoorde,Jenny A. Visser,Patric J. D. Delhanty,Monique Losekoot, Jan M. Wit,Sjoerd D. Joustra

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM(2025)

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Key words
GHSR,short stature,growth hormone,IGF-I
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