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Article

Novel NPR2 Gene Mutations Affect Chondrocytes Function via ER Stress in Short Stature.

Cells - 8 Apr 2022

Li Qiuyue, Fan Xin, Lu Wei, Sun Chengjun, Pei Zhou, Zhang Miaoying, Ni Jinwen, Wu Jing, Yu Fa-Xing, Luo Feihong

Abstract excerpt

Natriuretic peptide receptor 2 (NPR2) plays a key role in cartilage and bone morphogenesis. The NPR2 gene mutations result in acromesomelic dysplasia, Maroteaux type (AMDM), short stature with nonspecific skeletal abnormalities (SNSK), and epiphyseal chondrodysplasia, Miura type (ECDM). However, the pathogenic mechanism remains unclear. In our study, we identified one de novo (R557C) and six novel variants...

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Identifiers

PMID: 35455946
DOI: 10.3390/cells11081265
PMCID: PMC9024524

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