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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Khan, Arif O., Shinwari, Jameela, Omar, Aisha, Al-Sharif, Latifa, Khalil, Dania S., Alanazi, Mohammed, Al-Amri, Abdullah, Al Tassan, Nada
Formato: Artigo
Idioma:Inglês
Publicado em: Molecular Vision 2011
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3025099/
https://ncbi.nlm.nih.gov/pubmed/21264235
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados