Clinical characteristics of a KIF21A mutation in a Chinese family with congenital fibrosis of the extraocular muscles type 1

The aim of the study is to characterize the clinical ocular phenotype with congenital fibrosis of the extraocular muscles type 1 (CFEOM1) and to confirm whether the kinesin family member 21A (KIF21A) mutation was the pathogenic gene in this Chinese family. Three affected individuals and 2 asymptomat...

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Detalles Bibliográficos
Autores principales: Chen, Huiqiong, Liu, Tangbing, Zeng, Zhenhai, Wang, Yufei, Lin, Yuanyuan, Cheng, Lulu, Pan, Qintuo, Gu, Feng, Song, Zongming, Zhang, Zongduan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2017
Materias:
5800
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5617710/
https://www.ncbi.nlm.nih.gov/pubmed/28930843
http://dx.doi.org/10.1097/MD.0000000000008068

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5617710/
https://www.ncbi.nlm.nih.gov/pubmed/28930843
http://dx.doi.org/10.1097/MD.0000000000008068

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