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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:J Clin Endocrinol Metab
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2020
Assuntos:
Clinical Research Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7450217/
https://ncbi.nlm.nih.gov/pubmed/32282051
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/clinem/dgaa190
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados