[A rare case of PIK3R1 gene mutation associated SHORT syndrome].

{"title":"[A rare case of PIK3R1 gene mutation associated SHORT syndrome].","authors":"X Zhang, L W H Lin, L Xie, K N Chen, H B Quan","doi":"10.3760/cma.j.cn112138-20240513-00303","DOIUrl":null,"url":null,"abstract":"","PeriodicalId":68309,"journal":{"name":"中华内科杂志","volume":"64 1","pages":"60-64"},"PeriodicalIF":0.0000,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"中华内科杂志","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.3760/cma.j.cn112138-20240513-00303","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}