Renal Coloboma Syndrome – An Autosomal Dominant Genetic Disorder
Abstract: Renal coloboma syndrome is an autosomal dominant genetic disorder that primarily affects kidney and eye development. It is also known as papillorenal syndrome. People with this condition typically have kidneys that are small and underdeveloped (hypodysplastic), which can lead to end-stage renal disease. It has been estimated that approximately 10% of children with hypoplastic kidneys may have renal coloboma syndrome. The eye anomalies consist of a wide and dysplastic optic disk with the emergence of the retinal vessels from the periphery of the disk, frequently called optic nerve coloboma.
- Location
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Deutsche Nationalbibliothek Frankfurt am Main
- Extent
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Online-Ressource
- Language
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Englisch
- Bibliographic citation
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Renal Coloboma Syndrome – An Autosomal Dominant Genetic Disorder ; day:06 ; month:01 ; year:2023
The Indian journal of radiology and imaging ; (06.01.2023)
- Contributor
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Jayanthan, S. Shanmuga
Ganesh, Rajagopal
Karunakaran, Narayanan
Mukuntharajan, T.
Manodoss, A. Nancy
Dedhia, Karan
Nadanasadharam, K.
- DOI
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10.1055/s-0042-1760282
- URN
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urn:nbn:de:101:1-2023022310232186857947
- Rights
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Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
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14.08.2025, 10:53 AM CEST
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Associated
- Jayanthan, S. Shanmuga
- Ganesh, Rajagopal
- Karunakaran, Narayanan
- Mukuntharajan, T.
- Manodoss, A. Nancy
- Dedhia, Karan
- Nadanasadharam, K.
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