Retinal Dystrophy Gene Atlas

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192,59 

ISBN: 303013234X
ISBN 13: 9783030132347
Verlag: Springer Verlag GmbH
Umfang: xiii, 279 S., 6 s/w Illustr., 163 farbige Illustr., 279 p. 169 illus., 163 illus. in color.
Erscheinungsdatum: 10.12.2019
Weitere Autoren: Zahid, Sarwar/Branham, Kari/Schlegel, Dana et al
Auflage: 1/2019
Produktform: Kartoniert
Einband: Kartoniert

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 imaging. Retinal Dystrophy Gene Atlas serves as a resource to aid genetic diagnosis in patients with retinal dystrophies.

Artikelnummer: 7702680 Kategorie:

Beschreibung

Autorenporträt

Sarwar Zahid, MS, MDUniversity of Michigan Kellogg Eye CenterAnn Arbor, MI, USA Kari Branham, MS, CGC University of Michigan Kellogg Eye CenterAnn Arbor, MI, USA Dana Schlegel, MS, MPH, CGC University of MichiganKellogg Eye CenterAnn Arbor, MI, USA Mark Pennesi, PhD, MDCasey Eye InstitutePortland, OR, USA Michel Michaelides, MB, MDMoorfields Eye HospitalLondon, United Kingdom John Heckenlively, MDUniversity of Michigan Kellogg Eye Center Ann Arbor, MI, USA Thiran Jayasundera, MDUniversity of Michigan Kellogg Eye CenterAnn Arbor, MI, USA

Herstellerkennzeichnung:


Springer Verlag GmbH
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69121 Heidelberg
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E-Mail: juergen.hartmann@springer.com

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