Article
Mutations in C-natriuretic peptide (NPPC): a novel cause of autosomal dominant short stature.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2018
Hisado-Oliva Alfonso, Ruzafa-Martin Alba, Sentchordi Lucia, Funari Mariana F A, Bezanilla-López Carolina, Alonso-Bernáldez Marta, Barraza-García Jimena, Rodriguez-Zabala Maria, Lerario Antonio M, Benito-Sanz Sara, Aza-Carmona Miriam, Campos-Barros Angel, Jorge Alexander A L, Heath Karen E
Abstract excerpt
PurposeC-type natriuretic peptide (CNP) and its principal receptor, natriuretic peptide receptor B (NPR-B), have been shown to be important in skeletal development. CNP and NPR-B are encoded by natriuretic peptide precursor-C (NPPC) and natriuretic peptide receptor 2 (NPR2) genes, respectively. While NPR2 mutations have been described in patients with skeletal dysplasias and idiopathic short stature (ISS), and...
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