Thomas Premsler

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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 abnormalities. A similar phenotype was described in a family with an activating NPR2 mutation within the(More)
A bone overgrowth disorder due to a gain-offunction mutation in the kinase homology domain of guanylyl cyclase B, the receptor for CNP Michaela Kuhn, Thomas Premsler, Ruey-Bing Yang, Thomas D Mueller, Birgit Gaßner, Heike Oberwinkler, Sabine E Hannema, Hermine A van Duyvenvoorde, Ferdinand Roelfsema, Gijs WE Santen, Timothy Prickett, Sarina G Kant,(More)
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