Mutations in the AHI1 Gene, Encoding Jouberin, Cause Joubert Syndrome with Cortical Polymicrogyria-Reference-Cited by-同舟云学术

Mutations in the AHI1 Gene, Encoding Jouberin, Cause Joubert Syndrome with Cortical Polymicrogyria

Published:2004-12 Issue:6 Volume:75 Page:979-987
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Dixon-Salazar Tracy,Silhavy Jennifer L.,Marsh Sarah E.,Louie Carrie M.,Scott Lesley C.,Gururaj Aithala,Al-Gazali Lihadh,Al-Tawari Asma A.,Kayserili Hulya,Sztriha László,Gleeson Joseph G.

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference19 articles.

1. Syndromes of bilateral symmetrical polymicrogyria;Barkovich;Am J Neuroradiol,1999

2. Clinical nosologic and genetic aspects of Joubert and related syndromes;Chance;J Child Neurol,1999

3. Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome;Ferland;Nat Genet,2004

4. Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes;Gleeson;Am J Med Genet,2004

5. Mouse brain development,2000

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