Novel WISP3 mutations causing progressive pseudorheumatoid dysplasia in two Chinese families

Progressive pseudorheumatoid dysplasia (PPD) is a rare disease caused by mutations in the gene for Wnt1-inducible signaling pathway protein 3 (WISP3). Here, we report the clinical and radiographic manifestations of two Chinese PPD patients. We performed whole-exome sequencing for one patient and seq...

詳細記述

保存先:
書誌詳細
出版年:Hum Genome Var
主要な著者: Yan, Wenjin, Dai, Jin, Xu, Zhihong, Shi, Dongquan, Chen, Dongyang, Xu, Xingquan, Song, Kai, Yao, Yao, Li, Lan, Ikegawa, Shiro, Teng, Huajian, Jiang, Qing
フォーマット: Artigo
言語:Inglês
出版事項: Nature Publishing Group 2016
主題:
Data Report
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC5143363/
https://ncbi.nlm.nih.gov/pubmed/28018607
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2016.41
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