{"title":"【Kallmann综合征SPRY4基因错义突变1例报道】。","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":"{\"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}","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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