KIF21A Gene c.2860C>T Mutation in CFEOM1A: The First Report from Iran

Congenital Fibrosis of the Extra Ocular Muscles1 (CFEOM1) is an autosomal dominant condition, caused by mutation in the KIF21A and TUBB3. It is characterized by congenital non-progressive restrictive ophthalmoplegia and ptosis. Mutational analysis of the known genes in such rare diseases by Sanger s...

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Detalles Bibliográficos
Autores principales: Ramahi, Masoomeh, Rad, Abolfazl, Shirzadeh, Ebrahim, Najafi, Maryam
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Avicenna Research Institute 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6252030/
https://www.ncbi.nlm.nih.gov/pubmed/30555664

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6252030/
https://www.ncbi.nlm.nih.gov/pubmed/30555664

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