Joubert syndrome: A classic case

Joubert syndrome is a rare autosomal recessive disorder characterized by hyperpnoea and eye movements, hypotonia, ataxia, developmental retardation with neuropathologic abnormalities of cerebellum and brainstem including inherited hypoplasia or aplasia of vermis. Cerebellar vermin anomalies are desc...

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Bibliographic Details
Main Authors: Puneeth Kumar, Amit Dey, Kartik Mittal, Rajaram Sharma, Anmol Goyal, Priya Hira
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2019-01-01
Series:Journal of Family Medicine and Primary Care
Subjects:
Online Access:http://www.jfmpc.com/article.asp?issn=2249-4863;year=2019;volume=8;issue=1;spage=311;epage=312;aulast=Kumar