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

Joubert syndrome (JS) is an autosomal recessive disorder marked by agenesis of the cerebellar vermis, ataxia, hypotonia, oculomotor apraxia, neonatal breathing abnormalities, and mental retardation. Despite the fact that this condition was described >30 years ago, the molecular basis has remained...

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Autores principales: 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.
Formato: Artigo
Lenguaje:Inglês
Publicado: The American Society of Human Genetics 2004
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Articles
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1182159/
https://ncbi.nlm.nih.gov/pubmed/15467982
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