Articles with "joubert" as a keyword



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Late-onset hydrocephalus in a child with Joubert syndrome: a case report

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Published in 2018 at "Child's Nervous System"

DOI: 10.1007/s00381-018-3767-0

Abstract: IntroductionThe ciliopathy “Joubert syndrome” was first described in 1969 by Dr. Marie Joubert and most subtypes follow an autosomal recessive inheritance. The complex disorder shows typical clinical features, such as hyperventilation, abnormal eye movements, and… read more here.

Keywords: onset hydrocephalus; child; case; joubert ... See more keywords