J. Spranger, P. Brill, C. Hall, G. Nishimura, A. Superti-Furga, S. Unger
{"title":"软骨发育不全和相关FGFR3疾病","authors":"J. Spranger, P. Brill, C. Hall, G. Nishimura, A. Superti-Furga, S. Unger","doi":"10.1093/MED/9780190626655.003.0001","DOIUrl":null,"url":null,"abstract":"This chapter discusses achondroplasia and related FGFR3 conditions and explores thanatophoric dysplasia (Types 1 and 2), achondroplasia, hypochondroplasia, and severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN). Each discussion includes major clinical findings, major radiographic features, genetics, major differential diagnoses, and a bibliography.","PeriodicalId":415380,"journal":{"name":"Bone Dysplasias","volume":"51 2","pages":"0"},"PeriodicalIF":0.0000,"publicationDate":"2018-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Achondroplasia and Related FGFR3 Conditions\",\"authors\":\"J. Spranger, P. Brill, C. Hall, G. Nishimura, A. Superti-Furga, S. Unger\",\"doi\":\"10.1093/MED/9780190626655.003.0001\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"This chapter discusses achondroplasia and related FGFR3 conditions and explores thanatophoric dysplasia (Types 1 and 2), achondroplasia, hypochondroplasia, and severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN). Each discussion includes major clinical findings, major radiographic features, genetics, major differential diagnoses, and a bibliography.\",\"PeriodicalId\":415380,\"journal\":{\"name\":\"Bone Dysplasias\",\"volume\":\"51 2\",\"pages\":\"0\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2018-10-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Bone Dysplasias\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1093/MED/9780190626655.003.0001\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Bone Dysplasias","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1093/MED/9780190626655.003.0001","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
This chapter discusses achondroplasia and related FGFR3 conditions and explores thanatophoric dysplasia (Types 1 and 2), achondroplasia, hypochondroplasia, and severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN). Each discussion includes major clinical findings, major radiographic features, genetics, major differential diagnoses, and a bibliography.
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