An Activating Deletion Variant in the Submembrane Region of Natriuretic Peptide Receptor-B Causes Tall Stature

CONTEXT: C-type natriuretic peptide (CNP) is critically involved in endochondral bone growth. Variants in the genes encoding CNP or its cyclic guanosine monophosphate (cGMP)-forming receptor (natriuretic peptide receptor-B [NPR-B], gene NPR2) cause monogenic growth disorders. Here we describe a nove...

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Detalles Bibliográficos
Autores principales: Lauffer, Peter, Miranda-Laferte, Erick, van Duyvenvoorde, Hermine A, van Haeringen, Arie, Werner, Franziska, Boudin, Eveline, Schmidt, Hannes, Mueller, Thomas D, Kuhn, Michaela, van der Kaay, Daniëlle C M
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2020
Materias:
Clinical Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7450217/
https://www.ncbi.nlm.nih.gov/pubmed/32282051
http://dx.doi.org/10.1210/clinem/dgaa190

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7450217/
https://www.ncbi.nlm.nih.gov/pubmed/32282051
http://dx.doi.org/10.1210/clinem/dgaa190

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