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Autor:
Monique Losekoot, Thomas Premsler, Jan M. Wit, Birgit Gassner, Claudia A. L. Ruivenkamp, Ruey-Bing Yang, Gijs W. E. Santen, Sabine E. Hannema, Wilma Oostdijk, Ferdinand Roelfsema, Thomas D. Mueller, Alberto M. Pereira, Heike Oberwinkler, André G. Uitterlinden, Sarina G. Kant, Hermine A. van Duyvenvoorde, Eric A. Espiner, Timothy C. R. Prickett, Michaela Kuhn, Annemieke J.M.H. Verkerk
Publikováno v:
Journal of Clinical Endocrinology and Metabolism, 98(12), E1988-E1998
Journal of Clinical Endocrinology and Metabolism, 98(12), E1988-E1998. The Endocrine Society
Journal of Clinical Endocrinology and Metabolism, 98(12), E1988-E1998. Endocrine Society
Hannema, S E, Van Duyvenvoorde, H A, Thomas, P, Yang, R B, Mueller, T D, Gassner, B, Oberwinkler, H, Roelfsema, F, Santen, G W E, Prickett, T, Kant, S G, Verkerk, A J M H, Uitterlinden, A G, Espiner, E, Ruivenkamp, C A L, Oostdijk, W, Pereira, A M, Losekoot, M, Kuhn, M & Wit, J M 2013, ' An activating mutation in the kinase homology domain of the natriuretic peptide receptor-2 causes extremely tall stature without skeletal deformities ', Journal of Clinical Endocrinology and Metabolism, vol. 98, no. 12, pp. E1988-E1998 . https://doi.org/10.1210/jc.2013-2358
Journal of Clinical Endocrinology and Metabolism, 98(12), E1988-E1998. The Endocrine Society
Journal of Clinical Endocrinology and Metabolism, 98(12), E1988-E1998. Endocrine Society
Hannema, S E, Van Duyvenvoorde, H A, Thomas, P, Yang, R B, Mueller, T D, Gassner, B, Oberwinkler, H, Roelfsema, F, Santen, G W E, Prickett, T, Kant, S G, Verkerk, A J M H, Uitterlinden, A G, Espiner, E, Ruivenkamp, C A L, Oostdijk, W, Pereira, A M, Losekoot, M, Kuhn, M & Wit, J M 2013, ' An activating mutation in the kinase homology domain of the natriuretic peptide receptor-2 causes extremely tall stature without skeletal deformities ', Journal of Clinical Endocrinology and Metabolism, vol. 98, no. 12, pp. E1988-E1998 . https://doi.org/10.1210/jc.2013-2358
Background: C-type natriuretic peptide (CNP)/natriuretic peptide receptor 2 (NPR2) signaling is essential for long bone growth. Enhanced CNP production caused by chromosomal translocations results in tall stature, a Marfanoid phenotype, and skeletal