Corpus ID: 56464768

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

@article{Ramahi2018KIF21AGC,
  title={KIF21A Gene c.2860C>T Mutation in CFEOM1A: The First Report from Iran},
  author={M. Ramahi and A. Rad and E. Shirzadeh and M. Najafi},
  journal={Avicenna Journal of Medical Biotechnology},
  year={2018},
  volume={10},
  pages={273 - 276}
}
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 sequencing not only prevents wasting the time and expenses but also speeds diagnosis process, genetic counseling, and the possibility of prenatal diagnosis. Here, for the first time, association of… Expand

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