Renal Coloboma Syndrome—An Autosomal Dominant Genetic Disorder
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 dise...
Main Authors: | S. Shanmuga Jayanthan, Rajagopal Ganesh, Narayanan Karunakaran, T. Mukuntharajan, A. Nancy Manodoss, Karan Dedhia, K. Nadanasadharam |
---|---|
Format: | Article |
Language: | English |
Published: |
Thieme Medical and Scientific Publishers Pvt. Ltd.
2023-04-01
|
Series: | Indian Journal of Radiology and Imaging |
Subjects: | |
Online Access: | http://www.thieme-connect.de/DOI/DOI?10.1055/s-0042-1760282 |
Similar Items
-
PAX 2 Mutation in an Indian Family with Renal Coloboma Syndrome
by: Kumar Digvijay, et al.
Published: (2023-07-01) -
Coloboma of the optic disc: a case report
by: N.V. Konovalova, et al.
Published: (2019-04-01) -
Atypical superior iris and chorioretinal coloboma
by: Shweta Parakh, et al.
Published: (2022-01-01) -
Multimodal Imaging of Large Optic Disc Coloboma: A Report of Three Cases
by: Sophia El Hamichi, et al.
Published: (2020-11-01) -
Bilateral Optic Disc Anomalies Associated with PAX2 Mutation in a Case of Potter Sequence
by: Mizuki Tagami, et al.
Published: (2010-11-01)