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
The ring 14 syndrome: Clinical and molecular definition
β Scribed by Marcella Zollino; Laura Seminara; Daniela Orteschi; Giuseppe Gobbi; Simona Giovannini; Elvio Della Giustina; Daniele Frattini; Angela Scarano; Giovanni Neri
- Publisher
- John Wiley and Sons
- Year
- 2009
- Tongue
- English
- Weight
- 290 KB
- Volume
- 149A
- Category
- Article
- ISSN
- 1552-4825
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