Kannabiran, Chitra
자료유형 | 단행본 |
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개인저자 | Kannabiran, Chitra.,author. |
단체저자명 | SpringerLink (Online service). |
서명/저자사항 | Genetics of Eye Diseases [electronic resource] : An Overview / by Chitra Kannabiran. |
판사항 | 1st ed. 2019. |
형태사항 | XI, 172 p. 3 illus. in color:online resource. |
기본자료 저록 | Springer Nature eBook |
기타형태 저록 | Printed edition:9789811371455Printed edition:9789811371479Printed edition:9789811371486 |
ISBN | 9789811371462 |
기타표준부호 | 10.1007/978-981-13-7146-2 |
요약 | 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. |
일반주제명 | Ophthalmology. Medical genetics. Ophthalmology. Medical Genetics. |
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