Molecular characterization of Joubert syndrome in Saudi Arabia
β Scribed by Anas M. Alazami; Muneera J. Alshammari; Mustafa A. Salih; Fatema Alzahrani; Hadia Hijazi; Mohammed Z. Seidahmed; Leen Abu Safieh; Mazhor Aldosary; Arif O. Khan; Fowzan S. Alkuraya
- Book ID
- 112099795
- Publisher
- John Wiley and Sons
- Year
- 2012
- Tongue
- English
- Weight
- 357 KB
- Volume
- 33
- Category
- Article
- ISSN
- 1059-7794
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Joubert syndrome is an autosomal recessive disorder comprising cerebellar hypoplasia, hypotonia, developmental delay, abnormal respiratory patterns, and abnormal eye movements. The biochemical basis of the Joubert syndrome is unknown. We ascertained a cohort of 50 patients with the Joubert syndrome