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Titlebook: Retinal Dystrophy Gene Atlas; Sarwar Zahid,Kari Branham,Thiran Jayasundera Book 2018 Springer International Publishing AG, part of Springe

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發(fā)表于 2025-3-21 18:34:56 | 只看該作者 |倒序瀏覽 |閱讀模式
書目名稱Retinal Dystrophy Gene Atlas
編輯Sarwar Zahid,Kari Branham,Thiran Jayasundera
視頻videohttp://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
圖書封面Titlebook: Retinal Dystrophy Gene Atlas;  Sarwar Zahid,Kari Branham,Thiran Jayasundera Book 2018 Springer International Publishing AG, part of Springe
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
doihttps://doi.org/10.1007/978-3-319-10867-4
isbn_softcover978-3-030-13234-7
isbn_ebook978-3-319-10867-4
copyrightSpringer International Publishing AG, part of Springer Nature 2018
The information of publication is updating

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沙發(fā)
發(fā)表于 2025-3-21 22:45:16 | 只看該作者
,,eveloping and adult photoreceptor layer. It has also been shown to affect photoreceptor function as well as signal transduction through its mediation of cone PDE6 and RetGC1, respectively [1]. Mutations in . cause recessive Leber congenital amaurosis (LCA) and juvenile-onset rod-cone dystrophy, dominant cone-rod dystrophy has also been reported.
板凳
發(fā)表于 2025-3-22 01:41:30 | 只看該作者
,,ponsible for rod-cone (86.9%) and cone-rod (13.1%) dystrophies [2] and for syndromic features associated with Bardet-Biedl syndrome (BBS). . mutations may also cause isolated retinitis pigmentosa (RP) [3, 4].
地板
發(fā)表于 2025-3-22 04:34:48 | 只看該作者
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發(fā)表于 2025-3-22 11:53:01 | 只看該作者
,,kely function in membrane trafficking to the primary cilium [1, 2]. Mutations are responsible for rod-cone (86.9%) and cone-rod (13.1%) dystrophies [3] and for syndromic features associated with Bardet-Biedl Syndrome.
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發(fā)表于 2025-3-23 05:00:45 | 只看該作者
https://doi.org/10.1007/978-3-319-10867-4Autosomal Dominant Inheritance; Autosomal Recessive Inheritance; Linked Inheritance; Retinal Dystrophy;
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發(fā)表于 2025-3-23 07:22:09 | 只看該作者
978-3-030-13234-7Springer International Publishing AG, part of Springer Nature 2018
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