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Spatiotemporal expression pattern of KIF21A during normal embryonic development and in congenital fibrosis of the extraocular muscles type 1 (CFEOM1)

Congenital fibrosis of the extraocular muscles type 1 (CFEOM1) is a rare inherited strabismus syndrome characterized by non-progressive ophthalmoplegia. We previously identified that CFEOM1 results from heterozygous missense mutations in KIF21A, which encodes a kinesin motor protein. Here we evaluat...

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Detalhes bibliográficos
Main Authors: Desai, Jigar, Velo, Marie Pia Rogines, Yamada, Koki, Overman, Lynne M, Engle, Elizabeth C
Formato: Artigo
Idioma:Inglês
Publicado em: 2012
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3358471/
https://ncbi.nlm.nih.gov/pubmed/22465342
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.gep.2012.03.003
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