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
Clinical and molecular features of Joubert syndrome and related disorders
β Scribed by Melissa A. Parisi
- Publisher
- John Wiley and Sons
- Year
- 2009
- Tongue
- English
- Weight
- 305 KB
- Volume
- 151C
- Category
- Article
- ISSN
- 1552-4868
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