| 書(shū)目名稱(chēng) | Retinal Dystrophy Gene Atlas | | 編輯 | Sarwar Zahid,Kari Branham,Thiran Jayasundera | | 視頻video | http://file.papertrans.cn/830/829223/829223.mp4 | | 概述 | Describes a gene and all its possible clinical phenotypes and patient characteristics, along with retinal photos depicting each possible phenotype.Written by prominent retinal dystrophy specialists fr | | 圖書(shū)封面 |  | | 描述 | Classically, photo atlases of retinal dystrophies?have been divided into sections that?describe and depict a particular retinal finding?or disease, after which a differential diagnosis?of potential diseases or mutated genes?is provided. However, given the rapid?improvement in molecular diagnostics,?and the exponential?increase in our understanding of the phenotypes?caused by each mutated gene, the paradigm?has changed. Physicians are now?more interested in the variable expressivity associated with mutations in each individual?gene. Therefore,?.Retinal Dystrophy Gene?.Atlas?.catalogs the different phenotypes that?have been reported with each mutated gene. Each?section describes a gene and its known?clinical phenotypes and features of disease,?along with retinal photos of affected patients. Written by prominent retinal?dystrophy specialists from the largest?dystrophy centers worldwide,?.Retinal Dystrophy?.Gene Atlas?.contains more than 80?chapters, each of which describes the clinical?and photographic manifestations of a specific?gene. The chapters include?stunning clinical color photographs of the?retina, autofluorescence imaging, electrophysiologic?findings, and cross-sectional?ima | | 出版日期 | Book 2018 | | 關(guān)鍵詞 | Autosomal Dominant Inheritance; Autosomal Recessive Inheritance; Linked Inheritance; Retinal Dystrophy; | | 版次 | 1 | | doi | https://doi.org/10.1007/978-3-319-10867-4 | | isbn_softcover | 978-3-030-13234-7 | | isbn_ebook | 978-3-319-10867-4 | | copyright | Springer International Publishing AG, part of Springer Nature 2018 |
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