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...

Полное описание

Сохранить в:
Библиографические подробности
Главные авторы: 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.
Формат: Artigo
Язык:Inglês
Опубликовано: The American Society of Human Genetics 2004
Предметы:
Articles
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC1182159/
https://ncbi.nlm.nih.gov/pubmed/15467982
Метки: Добавить метку
Нет меток, Требуется 1-ая метка записи!

Схожие документы