Article

Identification and functional analysis of NPR2 truncating mutations in two Chinese families with Short Stature

2024-11-04

Abstract excerpt

<title>Abstract</title> <p><bold>Background:</bold> The signaling pathway of C-type natriuretic peptide (CNP) and its receptor (natriuretic peptide receptor 2, NPR2) is implicated in the process of endochondral ossification, which is crucial for the linear growth of long bones. Loss-of-function mutations in the NPR2 gene cause short stature. This study aimed to identify and characterize truncating mutations in NP...

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Literature Corpus work: 44a68324-6687-5270-bd58-911a6c10182a
DOI: 10.21203/rs.3.rs-5264281/v1

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