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.
- Standort
-
Deutsche Nationalbibliothek Frankfurt am Main
- Umfang
-
Online-Ressource
- Sprache
-
Englisch
- Erschienen in
-
Renal Coloboma Syndrome – An Autosomal Dominant Genetic Disorder ; day:06 ; month:01 ; year:2023
The Indian journal of radiology and imaging ; (06.01.2023)
- Beteiligte Personen und Organisationen
-
Jayanthan, S. Shanmuga
Ganesh, Rajagopal
Karunakaran, Narayanan
Mukuntharajan, T.
Manodoss, A. Nancy
Dedhia, Karan
Nadanasadharam, K.
- DOI
-
10.1055/s-0042-1760282
- URN
-
urn:nbn:de:101:1-2023022310232186857947
- Rechteinformation
-
Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Letzte Aktualisierung
-
14.08.2025, 10:53 MESZ
Datenpartner
Dieses Objekt wird bereitgestellt von:
Deutsche Nationalbibliothek. Bei Fragen zum Objekt wenden Sie sich bitte an den Datenpartner.
Deutsche Nationalbibliothek. Bei Fragen zum Objekt wenden Sie sich bitte an den Datenpartner.
Beteiligte
- Jayanthan, S. Shanmuga
- Ganesh, Rajagopal
- Karunakaran, Narayanan
- Mukuntharajan, T.
- Manodoss, A. Nancy
- Dedhia, Karan
- Nadanasadharam, K.
Ähnliche Objekte (12)
Autosomal dominant intellectual disability
Molekulargenetische Charakterisierung einer neuen autosomal-dominant vererbten Myopathie : die autosomal dominante Filaminopathie
Molecular basis for autosomal-dominant renal fanconi syndrome caused by HNF4A
Genetic causes and molecular mechanisms of autosomal dominant antibody deficiencies
Hyperuricemia and deterioration of renal function in autosomal dominant polycystic kidney disease
Novel functional and genetic findings in autosomal dominant tubulointerstitial kidney disease
MicroRNA and renal fibrosis in autosomal dominant polycystic kidney disease: a longitudinal study
Das Kniepterygium-Syndrom - ein autosomal dominantes Erbleiden
Autosomal dominant erbliche polyzystische Nierenerkrankung im Kindesalter
Autosomal dominant polycystic kidney disease : 39 tables
Autosomal dominant polycystic kidney disease in Colombia
Inflammatorische Zytokine bei autosomal dominanter polyzystischer Nierenerkrankung
Autosomal dominant intellectual disability
Molekulargenetische Charakterisierung einer neuen autosomal-dominant vererbten Myopathie : die autosomal dominante Filaminopathie
Molecular basis for autosomal-dominant renal fanconi syndrome caused by HNF4A
Genetic causes and molecular mechanisms of autosomal dominant antibody deficiencies
Hyperuricemia and deterioration of renal function in autosomal dominant polycystic kidney disease
Novel functional and genetic findings in autosomal dominant tubulointerstitial kidney disease
MicroRNA and renal fibrosis in autosomal dominant polycystic kidney disease: a longitudinal study
Das Kniepterygium-Syndrom - ein autosomal dominantes Erbleiden
Autosomal dominant erbliche polyzystische Nierenerkrankung im Kindesalter
Autosomal dominant polycystic kidney disease : 39 tables
Autosomal dominant polycystic kidney disease in Colombia
Inflammatorische Zytokine bei autosomal dominanter polyzystischer Nierenerkrankung
Autosomal dominant intellectual disability
Molekulargenetische Charakterisierung einer neuen autosomal-dominant vererbten Myopathie : die autosomal dominante Filaminopathie
Molecular basis for autosomal-dominant renal fanconi syndrome caused by HNF4A
Genetic causes and molecular mechanisms of autosomal dominant antibody deficiencies
Hyperuricemia and deterioration of renal function in autosomal dominant polycystic kidney disease
Novel functional and genetic findings in autosomal dominant tubulointerstitial kidney disease
MicroRNA and renal fibrosis in autosomal dominant polycystic kidney disease: a longitudinal study
Das Kniepterygium-Syndrom - ein autosomal dominantes Erbleiden
Autosomal dominant erbliche polyzystische Nierenerkrankung im Kindesalter
Autosomal dominant polycystic kidney disease : 39 tables
Autosomal dominant polycystic kidney disease in Colombia