Unique mutation spectrum of progressive pseudorheumatoid dysplasia in the Chinese population: a retrospective genotype–phenotype analysis of 105 patients

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 patie...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Nature Singapore 2023
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10258178/
https://www.ncbi.nlm.nih.gov/pubmed/36622578
http://dx.doi.org/10.1007/s12519-022-00674-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10258178/
https://www.ncbi.nlm.nih.gov/pubmed/36622578
http://dx.doi.org/10.1007/s12519-022-00674-7

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