Joubert syndrome (and related disorders) (OMIM 213300)
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://www.nature.com/articles/5201648.pdf
Reference66 articles.
1. Maria BL, Quisling RG, Rosainz LC et al: Molar tooth sign in Joubert syndrome: clinical, radiologic, and pathologic significance. J Child Neurol 1999; 14: 368–376.
2. Saraiva JM, Baraitser M : Joubert syndrome: a review. Am J Med Genet 1992; 43: 726–731.
3. Steinlin M, Schmid M, Landau K, Boltshauser E : Follow-up in children with Joubert syndrome. Neuropediatr 1997; 28: 204–211.
4. Joubert M, Eisenring JJ, Robb JP, Andermann F : Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation. Neurology 1969; 19: 813–825.
5. Maria BL, Boltshauser E, Palmer SC, Tran TX : Clinical features and revised diagnostic criteria in Joubert syndrome. J Child Neurol 1999; 14: 583–590; discussion 590–591.
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