Genetics of Eye Diseases : An Overview / by Chitra Kannabiran.

Format:

Book

Author/Creator:

Kannabiran, Chitra, author.

Contributor:

SpringerLink (Online service)

Series:

Medicine (Springer-11650)

Language:

English

Subjects (All):

Ophthalmology.

Human genetics.

Human Genetics.

Local Subjects:

Ophthalmology.

Human Genetics.

Physical Description:

1 online resource (XI, 172 pages) : 3 illustrations in color

Edition:

First edition 2019.

Contained In:

Springer eBooks

Place of Publication:

Singapore : Springer Singapore : Imprint: Springer, 2019.

System Details:

text file PDF

Summary:

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.

Other Format:

Printed edition:

ISBN:

978-981-13-7146-2

9789811371462

Access Restriction:

Restricted for use by site license.