[HTML][HTML] Mutations in C-natriuretic peptide (NPPC): a novel cause of autosomal dominant short stature
A Hisado-Oliva, A Ruzafa-Martin, L Sentchordi… - Genetics in …, 2018 - Elsevier
Purpose C-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 several Npr2 and
Nppc skeletal dysplasia mouse models exist, no mutations in NPPC have been described in …
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 several Npr2 and
Nppc skeletal dysplasia mouse models exist, no mutations in NPPC have been described in …
