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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Detaylı Bibliyografya
Asıl Yazarlar: 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.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: The American Society of Human Genetics 2004
Konular:
Articles
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC1182159/
https://ncbi.nlm.nih.gov/pubmed/15467982
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