Phenotypes linked to duplication upstream of SOX9: New insights into presentation and diagnosis
Authors Unal E, Tekmenuray-Unal A, Cayir A, Papatya Cakir ED, Beyazit N, Kolbasi B, Gurpinar Tosun B, Yigit G, Zibat A, Wollnik B, Demirbilek H, Guran T Journal The Journal of Clinical Endocrinology and Metabolism Citation J Clin Endocrinol Metab. 2025 Jan 15:dgaf020. Abstract Context: Duplications occurring upstream of the
