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Article

Identification and functional analysis of NPR2 truncating mutations in two Chinese families with short stature.

BMC pediatrics - 24 Feb 2025

Wei Shuoshuo, Li Rong, He Dongye, Zhang Chuanpeng, Zhang Mei, Li Yanying, Chen Shuxiong, Liu Fupeng, Ban Bo, Zhao Qianqian

Abstract excerpt

BACKGROUND: 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 NPR2 among Chinese families with short...

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Source

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Identifiers

PMID: 39994698
DOI: 10.1186/s12887-025-05478-y
PMCID: PMC11849161

Genes

NPR2
CNP

Variants

Provenance

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Identification and functional analysis of NPR2 truncating mutations in two Chinese families with short stature.PMID 39994698Read ↗

Identification and functional analysis of NPR2 truncating mutations in two Chinese families with Short StatureSemantic proximity Read ↗

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