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Joubert Syndrome - A Case Report

Joubert syndrome is a very rare malformation.It is estimated to affect between 1 in 80,000and 1 in 100,000 newborns.Joubert syndromeis an autosomal recessive disorder marked byagenesis of cerebellar vermis, ataxia, hypoto-nia, oculomotor apraxia, neonatal breathingproblems and mental retardation.

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書誌詳細
主要な著者: Bandichhode S. T., Anitha M. S., Anand Pandav
フォーマット: Artigo
言語:Inglês
出版事項: Krishna Vishwa Vidyapeeth (Deemed to be University), Karad 2013-07-01
シリーズ:Journal of Krishna Institute of Medical Sciences University
主題:
オンライン・アクセス:http://www.jkimsu.com/jkimsu-vol2no2/jkimsu%20vol%202%20no%202%20july%20-%20dec%202013%20138-140.pdf
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