NM_026203[Secondary Source ID] - Search Results

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Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome.

Ferland RJ, Eyaid W, Collura RV, Tully LD, Hill RS, Al-Nouri D, Al-Rumayyan A, Topcu M, Gascon G, Bodell A, Shugart YY, Ruvolo M, Walsh CA. Ferland RJ, et al. Nat Genet. 2004 Sep;36(9):1008-13. doi: 10.1038/ng1419. Epub 2004 Aug 22. Nat Genet. 2004. PMID: 15322546

Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria.

Dixon-Salazar T, Silhavy JL, Marsh SE, Louie CM, Scott LC, Gururaj A, Al-Gazali L, Al-Tawari AA, Kayserili H, Sztriha L, Gleeson JG. Dixon-Salazar T, et al. Am J Hum Genet. 2004 Dec;75(6):979-87. doi: 10.1086/425985. Epub 2004 Oct 4. Am J Hum Genet. 2004. PMID: 15467982 Free PMC article.

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