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

Our study identified two loss-of-function mutations of the NPR2 gene in two Chinese families and offered new insights on the pathogenesis of short stature caused by NPR2 truncating mutations.

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Publication Details

Journal
BMC Pediatrics
Published
2025-02-24
DOI
https://doi.org/10.1186/s12887-025-05478-y
Citations
2
Primary Topic
RNA modifications and cancer
Type
article
Field-Weighted Citation Impact
1.61
Controls
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article

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

Dongye He, Rong Li, Qianqian Zhao, Shuxiong Chen et al.
2 citations
BMC Pediatrics
RNA modifications and cancer
1.61
article

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

Dongye He, Rong Li, Qianqian Zhao, Shuxiong Chen, Fupeng Liu, Chuan-Peng Zhang, Shuoshuo Wei, Yanying Li, Mei Zhang, Bo Ban
article en
2 citations

Abstract

Our study identified two loss-of-function mutations of the NPR2 gene in two Chinese families and offered new insights on the pathogenesis of short stature caused by NPR2 truncating mutations.

BMC PediatricsVol. 25(1)
Affiliated Hospital of Jining Medical University (CN)
Gender equality
Openalex Percentile: Top 19%
RNA modifications and cancer
1.61
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Identification and functional analysis of NPR2 truncating mutations in two Chinese families with short stature — Dongye He, Rong Li, et al. · BMC Pediatrics (2025) | TGRS Research Map | TGRS