Article
Unique mutation spectrum of progressive pseudorheumatoid dysplasia in the Chinese population: a retrospective genotype-phenotype analysis of 105 patients.
World journal of pediatrics : WJP - 1 Jul 2023
Wang Wei, Gao Si-Hao, Wei Min, Zhong Lin-Qing, Liu Wei, Jian Shan, Xiao Juan, Zhang Cai-Hui, Zhang Jian-Guo, Zeng Xiao-Feng, Xia Wei-Bo, Qiu Zheng-Qing, Song Hong-Mei
Abstract excerpt
BACKGROUND: Progressive pseudorheumatoid dysplasia (PPRD) is a rare genetic disease with autosomal recessive inheritance. There was a lack of genotype-phenotype correlation data from the Chinese population. This study aimed to identify the genotype and phenotype characteristics of Chinese PPRD patients and to conduct a genotype-phenotype analysis of Chinese PPRD patients. METHODS: Genetic analysis was performed...
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