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KIF21A mutation in two Chinese families with congenital fibrosis of the extraocular muscles type 1 and 3

Congenital fibrosis of the extraocular muscles (CFEOM) is a hereditary ocular disease and can be classified into three subtypes. The aim of the present study was to determine the genetic basis and describe the clinical phenotype of CFEOM type 1 and 3. Two Chinese families with CFEOM type 1 and 3 wer...

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Detalles Bibliográficos
Autores principales: Chen, Jingchang, Ye, Qingqing, Deng, Daming, Yan, Jianhua, Lin, Houbian, Shen, Tao, Lin, Ying
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5042766/
https://www.ncbi.nlm.nih.gov/pubmed/27513105
http://dx.doi.org/10.3892/mmr.2016.5624