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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...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
D.A. Spandidos
2016
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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 |