Lack of KIF21A mutations in congenital fibrosis of the extraocular muscles type I patients from consanguineous Saudi Arabian families

PURPOSE: Congenital fibrosis of the extraocular muscles type I (CFEOM1), the most common CFEOM worldwide, is characterized by bilateral ptotic hypotropia, an inability to supraduct above the horizontal midline, horizontal strabismus (typically exotropia), and ophthalmoplegia with abnormal synkinesis...

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Detalles Bibliográficos
Autores principales: Khan, Arif O., Shinwari, Jameela, Omar, Aisha, Al-Sharif, Latifa, Khalil, Dania S., Alanazi, Mohammed, Al-Amri, Abdullah, Al Tassan, Nada
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2011
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3025099/
https://www.ncbi.nlm.nih.gov/pubmed/21264235

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