A Case of Joubert Syndrome with Chronic Kidney Disease

A Case of Joubert Syndrome with Chronic Kidney Disease

Joubert syndrome is a genetically heterogeneous disorder that belongs to the group of cerebello-oculo-renal syndromes. It is characterised by neurodevelopmental abnormalities and complex midbrain-hindbrain malformation, visible on brain imaging as a molar tooth sign. It is classified as a ciliopathy...

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Bibliographic Details
Main Authors: M P Shamsudheen, Uttara Das, Gangadhar Taduri, Swarnalatha Guditi, Raja Karthik, Rajani Thakur
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2021-01-01
Series:Indian Journal of Nephrology
Subjects:
cerebello-oculo-renal syndrome
ciliopathy
joubert syndrome
molar tooth sign
Online Access:http://www.indianjnephrol.org/article.asp?issn=0971-4065;year=2021;volume=31;issue=1;spage=61;epage=63;aulast=Shamsudheen

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http://www.indianjnephrol.org/article.asp?issn=0971-4065;year=2021;volume=31;issue=1;spage=61;epage=63;aulast=Shamsudheen

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