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Broadening the Spectrum of Loss-of-Function Variants in NPR-C-Related Extreme Tall Stature

CONTEXT: Natriuretic peptide receptor-C (NPR-C, encoded by NPR3) belongs to a family of cell membrane–integral proteins implicated in various physiological processes, including longitudinal bone growth. NPR-C acts as a clearance receptor of natriuretic peptides, including C-type natriuretic peptide...

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Detalles Bibliográficos
Autores principales: Lauffer, Peter, Boudin, Eveline, van der Kaay, Daniëlle C M, Koene, Saskia, van Haeringen, Arie, van Tellingen, Vera, Van Hul, Wim, Prickett, Timothy C R, Mortier, Geert, Espiner, Eric A, van Duyvenvoorde, Hermine A
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8879884/
https://www.ncbi.nlm.nih.gov/pubmed/35233476
http://dx.doi.org/10.1210/jendso/bvac019