Anterior Mesencephalic Cap Dysplasia: Novel Brain Stem Malformative Features Associated with Joubert Syndrome [PDF]
, 2017 Filippo Arrigoni +7 more
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Joubert Syndrome - A Case Report [PDF]
Journal of Krishna Institute of Medical Sciences University, 2013 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 ...
Bandichhode S. T. +2 more
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Super-resolution microscopy reveals that disruption of ciliary transition zone architecture is a cause of Joubert syndrome [PDF]
, 2017 Xiaoyu Shi +7 more
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Severe central apnea secondary to cerebellar dysplasia in a child: look past Joubert syndrome [PDF]
, 2020 Jessica Taytard +7 more
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Srpski arhiv za celokupno lekarstvo, 2008 In 1969 a new syndrome was described by Joubert et al. It is a very rare syndrome as only about 30 cases have been reported, and none in Yugoslavia. The main clinical characteristics are as ballows. - Disturbed respiratory rhythm alternating periods of hyperapnea and apnea) which tend to disappear as the child grows; - Abnormal eyemovements (jerky ...
D, Vranjesević, A, Djukić, N, Sekulić
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A Rare Case of Global Developmental Delay with Ataxia Joubert Syndrome
, 2016 Nagesh Dasarwar, Sravya Datla
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Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center [PDF]
, 2017 Thierry Vilboux +16 more
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P18.01: Joubert syndrome at 11–13 weeks: molar tooth sign and associated brain anomalies [PDF]
, 2019 F. Ushakov
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Mutations in CSPP1 Cause Primary Cilia Abnormalities and Joubert Syndrome with or without Jeune Asphyxiating Thoracic Dystrophy [PDF]
, 2013 Karina Tuz +26 more
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Joubert syndrome with Jeune asphyxiating thoracic dystrophy [PDF]
, 2020 INSERM
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