Rare association of Hirschsprung’s disease and Joubert syndrome
Author:
Publisher
Springer Science and Business Media LLC
Subject
Pediatrics, Perinatology, and Child Health
Link
http://link.springer.com/content/pdf/10.1007/s00431-007-0504-1.pdf
Reference9 articles.
1. Amiel J, Lyonnet S (2001) Hirschsprung disease, associated syndromes, and genetics: a review. J Med Genet 38:729–739
2. Joubert M, Eisenring JJ, Robb JP, Andermann F (1969) Familial agenesis of the cerebellar vermis: a syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation. Neurology 19:813–825
3. Louie CM, Gleeson JG (2005) Genetic basis of Joubert syndrome and related disorders of cerebellar development. Hum Mol Genet 14:R235–R242
4. Maria BL, Quisling RG, Rosainz LC, Yachnis AT, Gitten J, Dede D, Fennell E (1999) Molar tooth sign in Joubert syndrome: clinical, radiologic, and pathologic significance. J Child Neurol 14:368–376
5. Moore SW (2006) The contribution of associated congenital anomalies in understanding Hirschprung’s disease. Pediatr Surg Int 22:305–315
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