Publications:

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

World Journal Of Pediatrics : Wjp

Wang, Wei W; Gao, Si-Hao SH; Wei, Min M; Zhong, Lin-Qing LQ; Liu, Wei W; Jian, Shan S; Xiao, Juan J; Zhang, Cai-Hui CH; Zhang, Jian-Guo JG; Zeng, Xiao-Feng XF; Xia, Wei-Bo WB; Qiu, Zheng-Qing ZQ; Song, Hong-Mei HM

Publication Date: 2023-01-09

Variant appearance in text: ESR: 707delG

PubMed Link: 36622578

Variant Present in the following documents:

• 12519_2022_Article_674.pdf

View BVdb publication page

Coexistence of a novel WISP3 pathogenic variant and an MEFV mutation in an Arabic family with progressive pseudorheumatoid dysplasia mimicking polyarticular juvenile idiopathic arthritis.

Pediatric Rheumatology Online Journal

Fathalla, Basil M BM; Elgabaly, Elham Ahmed EA; Tayoun, Ahmad Abou AA

Publication Date: 2020-09-07

Variant appearance in text: ESR: 707delG

PubMed Link: 32894151

Variant Present in the following documents:

• Main text

View BVdb publication page