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Loss-of-Function GHSR Variants Are Associated With Short Stature and Low IGF-I.

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Title: Loss-of-Function GHSR Variants Are Associated With Short Stature and Low IGF-I.
Authors: Punt LD; Division of Pediatric Endocrinology, Department of Pediatrics, Willem-Alexander Children's Hospital, Leiden University Medical Centre, 2333 ZA Leiden, the Netherlands., Kooijman S; Division of Endocrinology, Department of Medicine, Leiden University Medical Centre, 2333 ZA Leiden, the Netherlands.; Einthoven Laboratory for Experimental Vascular Medicine, Leiden University Medical Centre, 2333 ZA Leiden, the Netherlands., Mutsters NJM; Division of Endocrinology, Department of Internal Medicine, Erasmus MC, University Medical Centre Rotterdam, 3015 GD Rotterdam, the Netherlands., Yue K; Division of Endocrinology, Department of Medicine, Leiden University Medical Centre, 2333 ZA Leiden, the Netherlands., van der Kaay DCM; Division of Pediatric Endocrinology, Department of Pediatrics, Erasmus University Medical Centre, Sophia Children's Hospital, 3015 GD Rotterdam, the Netherlands., van Tellingen V; Department of Pediatrics, Catharina Hospital, 5623 EJ Eindhoven, the Netherlands., Bakker-van Waarde WM; Division of Pediatric Endocrinology, University Medical Centre Groningen, University of Groningen, 9713 GZ Groningen, the Netherlands., Boot AM; Division of Pediatric Endocrinology, University Medical Centre Groningen, University of Groningen, 9713 GZ Groningen, the Netherlands., van den Akker ELT; Division of Pediatric Endocrinology, Department of Pediatrics, Erasmus University Medical Centre, Sophia Children's Hospital, 3015 GD Rotterdam, the Netherlands., van Boekholt AA; Department of Pediatrics, VieCuri Medical Centre, 5912 BL Venlo, the Netherlands., de Groote K; Division of Pediatric Endocrinology, Department of Pediatrics, Willem-Alexander Children's Hospital, Leiden University Medical Centre, 2333 ZA Leiden, the Netherlands., Kruijsen AR; Division of Pediatric Endocrinology, Department of Pediatrics, Willem-Alexander Children's Hospital, Leiden University Medical Centre, 2333 ZA Leiden, the Netherlands., van Nieuwaal-van Maren NHG; Department of Pediatrics, Gelderse Vallei Hospital, 6716 RP Ede, the Netherlands., Woltering MC; Department of Pediatrics, Reinier de Graaf Gasthuis, 2625 AD Delft, the Netherlands., Heijligers M; Department of Clinical Genetics, Maastricht University Medical Centre, 6229 HX Maastricht, the Netherlands., van der Heyden JC; Department of Pediatrics, Franciscus Gasthuis & Vlietland, 3045 PM Rotterdam, the Netherlands., Bannink EMN; Department of Pediatrics, Tergooi MC, 1212 VG Hilversum, the Netherlands., Rinne T; Department of Human Genetics, Radboud UMC, 6525 GA Nijmegen, the Netherlands., Hannema SE; Department of Pediatric Endocrinology, Amsterdam UMC, location Vrije Universiteit, 1081 HV Amsterdam, the Netherlands.; Amsterdam Gastroenterology Endocrinology Metabolism, 1081 HV Amsterdam, the Netherlands.; Amsterdam Reproduction and Development, 1105 AZ Amsterdam, the Netherlands., de Waal WJ; Department of Pediatrics, Diakonessenhuis, 3582 KE Utrecht, the Netherlands., Delemarre LC; Department of Pediatrics, Amstelland Hospital, 1186 AM Amstelveen, the Netherlands., Rensen PCN; Division of Endocrinology, Department of Medicine, Leiden University Medical Centre, 2333 ZA Leiden, the Netherlands.; Einthoven Laboratory for Experimental Vascular Medicine, Leiden University Medical Centre, 2333 ZA Leiden, the Netherlands., de Bruin C; Division of Pediatric Endocrinology, Department of Pediatrics, Willem-Alexander Children's Hospital, Leiden University Medical Centre, 2333 ZA Leiden, the Netherlands., van Duyvenvoorde HA; Department of Clinical Genetics, Leiden University Medical Centre, 2333 ZA Leiden, the Netherlands., Visser JA; Division of Endocrinology, Department of Internal Medicine, Erasmus MC, University Medical Centre Rotterdam, 3015 GD Rotterdam, the Netherlands., Delhanty PJD; Division of Endocrinology, Department of Internal Medicine, Erasmus MC, University Medical Centre Rotterdam, 3015 GD Rotterdam, the Netherlands., Losekoot M; Department of Clinical Genetics, Leiden University Medical Centre, 2333 ZA Leiden, the Netherlands., Wit JM; Division of Pediatric Endocrinology, Department of Pediatrics, Willem-Alexander Children's Hospital, Leiden University Medical Centre, 2333 ZA Leiden, the Netherlands., Joustra SD; Division of Pediatric Endocrinology, Department of Pediatrics, Willem-Alexander Children's Hospital, Leiden University Medical Centre, 2333 ZA Leiden, the Netherlands.
Source: The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 2025 Apr 22; Vol. 110 (5), pp. e1303-e1314.
Publication Type: Journal Article
Journal Info: Publisher: Oxford University Press Country of Publication: United States NLM ID: 0375362 Publication Model: Print Cited Medium: Internet ISSN: 1945-7197 (Electronic) Linking ISSN: 0021972X NLM ISO Abbreviation: J Clin Endocrinol Metab Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Loss-of-Function GHSR Variants Are Associated With Short Stature and Low IGF-I.
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  Data: <searchLink fieldCode="AU" term="%22Punt+LD%22">Punt LD</searchLink>; Division of Pediatric Endocrinology, Department of Pediatrics, Willem-Alexander Children's Hospital, Leiden University Medical Centre, 2333 ZA Leiden, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Kooijman+S%22">Kooijman S</searchLink>; Division of Endocrinology, Department of Medicine, Leiden University Medical Centre, 2333 ZA Leiden, the Netherlands.; Einthoven Laboratory for Experimental Vascular Medicine, Leiden University Medical Centre, 2333 ZA Leiden, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Mutsters+NJM%22">Mutsters NJM</searchLink>; Division of Endocrinology, Department of Internal Medicine, Erasmus MC, University Medical Centre Rotterdam, 3015 GD Rotterdam, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Yue+K%22">Yue K</searchLink>; Division of Endocrinology, Department of Medicine, Leiden University Medical Centre, 2333 ZA Leiden, the Netherlands.<br /><searchLink fieldCode="AU" term="%22van+der+Kaay+DCM%22">van der Kaay DCM</searchLink>; Division of Pediatric Endocrinology, Department of Pediatrics, Erasmus University Medical Centre, Sophia Children's Hospital, 3015 GD Rotterdam, the Netherlands.<br /><searchLink fieldCode="AU" term="%22van+Tellingen+V%22">van Tellingen V</searchLink>; Department of Pediatrics, Catharina Hospital, 5623 EJ Eindhoven, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Bakker-van+Waarde+WM%22">Bakker-van Waarde WM</searchLink>; Division of Pediatric Endocrinology, University Medical Centre Groningen, University of Groningen, 9713 GZ Groningen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Boot+AM%22">Boot AM</searchLink>; Division of Pediatric Endocrinology, University Medical Centre Groningen, University of Groningen, 9713 GZ Groningen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22van+den+Akker+ELT%22">van den Akker ELT</searchLink>; Division of Pediatric Endocrinology, Department of Pediatrics, Erasmus University Medical Centre, Sophia Children's Hospital, 3015 GD Rotterdam, the Netherlands.<br /><searchLink fieldCode="AU" term="%22van+Boekholt+AA%22">van Boekholt AA</searchLink>; 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