X H Tao, T Xu, Q Lu, W D Yang, Y Q Hu, W Z Fu, H Yue, Z L Zhang
{"title":"[Paget's disease of bone with SQSTM1 and HNRNPA2B1 gene mutations: report of 2 cases].","authors":"X H Tao, T Xu, Q Lu, W D Yang, Y Q Hu, W Z Fu, H Yue, Z L Zhang","doi":"10.3760/cma.j.cn112138-20220901-00648","DOIUrl":null,"url":null,"abstract":"畸形性骨炎是一种临床罕见的慢性进展性代谢性骨病，目前病因不明，其主要特征为骨吸收增加，随之代偿性新骨形成增加，临床表现为碱性磷酸酶升高、骨痛、骨骼畸形，易出现病理性骨折。本文报道2例罕见的畸形性骨炎分别由SQSTM1基因及HNRNPA2B1基因突变所致，分析2例患者的临床表现并复习相关文献，以期提高临床医生对该病的认识和诊治水平，并为后续开展分子诊断和基因筛查提供依据。.","PeriodicalId":24000,"journal":{"name":"Zhonghua nei ke za zhi","volume":"62 8","pages":"1021-1025"},"PeriodicalIF":0.0000,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Zhonghua nei ke za zhi","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.3760/cma.j.cn112138-20220901-00648","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
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