Atlas of Inherited Retinal Diseases
This atlas provides a thorough overview of various inherited retinal dystrophies with an emphasis on phenotype characteristics and how they relate to the most frequently encountered genes. It also meets the previously unmet needs of PhD students who will benefit from seeing the phenotypes of genes t...
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| Korporativní autor: | |
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| Další autoři: | , , |
| Médium: | Elektronický zdroj E-kniha |
| Jazyk: | angličtina |
| Vydáno: |
Cham :
Springer Nature Switzerland : Imprint: Springer,
2025.
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| Vydání: | 2nd ed. 2025. |
| Edice: | Advances in Experimental Medicine and Biology,
1467 |
| Témata: | |
| On-line přístup: | https://doi.org/10.1007/978-3-031-72230-1 |
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| Shrnutí: | This atlas provides a thorough overview of various inherited retinal dystrophies with an emphasis on phenotype characteristics and how they relate to the most frequently encountered genes. It also meets the previously unmet needs of PhD students who will benefit from seeing the phenotypes of genes they work on and study. Further, because genetic-testing costs are quite high and spiraling higher, this atlas will help geneticists familiarize themselves with the candidate gene approach to test patients’ genomes, enabling more cost-efficient testing. This invaluable atlas is organized into eight sections starting with an introduction to the basic knowledge on retinal imaging, followed by diseases listed according to inheritance pattern and disorders with extraocular manifestations grouped by defining features. This structure will be intuitive to clinicians and students studying inherited retinal disorders. In this thoroughly updated new edition featuring new images and the latest research developments, new chapters on the history taking of IRD suspect patients. Updated chapters on mimics of IRD diseases, as well as a novel section on current available treatments. |
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| Fyzický popis: | 1 online resource (XVI, 361 p. 199 illus.). 178 illus. in color. |
| ISBN: | 9783031722301 |
| ISSN: | 2214-8019 ; |
| DOI: | 10.1007/978-3-031-72230-1 |