Phenotype, genotype, and management of congenital fibrosis of extraocular muscles type 1 in 16 Chinese families

PURPOSE: Congenital fibrosis of extraocular muscles type 1 (CFEOM1), a classical subtype of CFEOM, is characterized by restrictive ophthalmoplegia and ptosis. It is mainly caused by aberrant neural innervation of the extraocular muscles. This study aimed to investigate the genetic characteristics an...

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Detalles Bibliográficos
Autores principales: Chen, Moxin, Huang, Rui, Zhang, Yingjie, Zhu, Deyi Jasmine, Shu, Qin, Xun, Pengcheng, Zhang, Jing, Gu, Ping, Li, Lin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9988770/
https://www.ncbi.nlm.nih.gov/pubmed/36138147
http://dx.doi.org/10.1007/s00417-022-05830-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9988770/
https://www.ncbi.nlm.nih.gov/pubmed/36138147
http://dx.doi.org/10.1007/s00417-022-05830-3

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