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...

Descripción completa

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

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3025099/
https://www.ncbi.nlm.nih.gov/pubmed/21264235

Ejemplares similares