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Article

Genetic basis of relapsing polychondritis revealed by family-based whole-exome sequencing.

International journal of rheumatic diseases - 1 May 2020

Feng Junmei, Zuo Xiaoyu, Gui Lian, Qi Jun, Guo Xinghua, Lv Qing, Zhang Yanli, Fang Linkai, Zhang Xi, Gu Jieruo, Lin Zhiming

Abstract excerpt

AIM: Genetic factors are believed to be implicated in the pathogenesis of relapsing polychondritis (RP). However, the molecular genetic determinants remain to be elucidated. This study aimed to detect the susceptibility genes of RP with whole-exome sequencing (WES) in a Chinese family and deepen our understanding of the pathogenesis of RP thereafter. METHOD: A 32-year-old Chinese female proband with RP and her...

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PMID: 32107856
DOI: 10.1111/1756-185X.13809

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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