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Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria.
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.
Affiliation
  • Dixon-Salazar T; Laboratory for Neurogenetics, Department of Neurosciences, University of California-San Diego, La Jolla, CA 92093-0691, USA.
Am J Hum Genet ; 75(6): 979-87, 2004 Dec.
Article in En | MEDLINE | ID: mdl-15467982
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phenotype / Abnormalities, Multiple / Cerebellum / Mutation / Nerve Tissue Proteins Limits: Humans Language: En Journal: Am J Hum Genet Year: 2004 Document type: Article Affiliation country: United States Country of publication: United States
Fulltext
Add to My VHL
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phenotype / Abnormalities, Multiple / Cerebellum / Mutation / Nerve Tissue Proteins Limits: Humans Language: En Journal: Am J Hum Genet Year: 2004 Document type: Article Affiliation country: United States Country of publication: United States