{"title":"[Missense mutation of SPRY4 gene in Kallmann syndrome: a case report].","authors":"Q Hui, Q Zhang, G F Qian","doi":"10.3760/cma.j.cn112138-20221009-00744","DOIUrl":null,"url":null,"abstract":"Kallmann综合征是一种罕见的先天性疾病，主要表现为嗅觉缺陷和低促性腺激素性性腺功能减退［1］。迄今为止，已发现30余种基因与该病相关。本文报道1例因自幼嗅觉缺失、发现阴茎短小4年就诊的青少年男性，经基因检测诊断为由少见基因SPRY4错义突变引起的Kallmann综合征，旨在丰富疾病基因突变谱，同时提高临床医生对该病的认识。.","PeriodicalId":24000,"journal":{"name":"Zhonghua nei ke za zhi","volume":"62 7","pages":"860-863"},"PeriodicalIF":0.0000,"publicationDate":"2023-07-01","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.cn112138-20221009-00744","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
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