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Genetics of eye diseasesan overview /

Kannabiran, Chitra.

Genetics of eye diseasesan overview /

Record Type:	Electronic resources : Monograph/item
Title/Author:	Genetics of eye diseasesby Chitra Kannabiran.
Reminder of title:	an overview /
Author:	Kannabiran, Chitra.
Published:	Singapore :Springer Singapore :2019.
Description:	xi, 172 p. :ill., digital ;24 cm.
Contained By:	Springer eBooks
Subject:	Ophthalmology.
Online resource:	https://doi.org/10.1007/978-981-13-7146-2
ISBN:	9789811371462$q(electronic bk.)

Genetics of eye diseasesan overview /
Kannabiran, Chitra.

Genetics of eye diseasesan overview /[electronic resource] :by Chitra Kannabiran. - Singapore :Springer Singapore :2019. - xi, 172 p. :ill., digital ;24 cm.

This book provides comprehensive information on the genetics of eye diseases affecting various parts of the eye, and addresses a range of genetic etiologies. These diseases include several hereditary disorders of anterior and posterior segment, and with different genetic etiologies. The genetics of eye diseases is a field that has been rapidly growing over the last two decades, and comprises a vast area with considerable clinical and genetic heterogeneity. The main goal of this work is to discuss the status quo of genetics for each of the disorders covered, and to highlight unusual or atypical patterns of inheritance and genetic associations. For each relevant gene, it describes the pathogenic associations and variants, genotype-phenotype correlations, and functions at the cellular and molecular level. Genetics of Eye Diseases offers a valuable reference guide for geneticists and clinicians alike, while also providing a comprehensive overview of the field for graduate and doctoral-level students. In addition to sharing essential information on the genetics of each disease, it highlights recent advances that are representative of the developments in the field as a whole.

ISBN: 9789811371462$q(electronic bk.)

Standard No.: 10.1007/978-981-13-7146-2doiSubjects--Topical Terms:

274149
Ophthalmology.

LC Class. No.: RE906 / .K35 2019

Dewey Class. No.: 617.7042

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520 $a This book provides comprehensive information on the genetics of eye diseases affecting various parts of the eye, and addresses a range of genetic etiologies. These diseases include several hereditary disorders of anterior and posterior segment, and with different genetic etiologies. The genetics of eye diseases is a field that has been rapidly growing over the last two decades, and comprises a vast area with considerable clinical and genetic heterogeneity. The main goal of this work is to discuss the status quo of genetics for each of the disorders covered, and to highlight unusual or atypical patterns of inheritance and genetic associations. For each relevant gene, it describes the pathogenic associations and variants, genotype-phenotype correlations, and functions at the cellular and molecular level. Genetics of Eye Diseases offers a valuable reference guide for geneticists and clinicians alike, while also providing a comprehensive overview of the field for graduate and doctoral-level students. In addition to sharing essential information on the genetics of each disease, it highlights recent advances that are representative of the developments in the field as a whole.
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