Case Report: A Novel Homozygous Mutation in MYF5 Due to Paternal Uniparental Isodisomy of Chromosome 12 in a Case of External Ophthalmoplegia With Rib and Vertebral Anomalies

External ophthalmoplegia with rib and vertebral anomalies (EORVA) is characterized by congenital nonprogressive external ophthalmoplegia, ptosis, scoliosis, torticollis, vertebral, and rib anomalies, caused by homozygous mutations in the myogenic factor 5 gene (MYF5) located on chromosome 12q21.31....

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Detalles Bibliográficos
Autores principales: Li, Qianqian, Zhu, Xiaofan, Yu, Chenguang, Shang, Lin, Li, Ranran, Wang, Xia, Yang, Yaping, Meng, Jingjing, Kong, Xiangdong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8851471/
https://www.ncbi.nlm.nih.gov/pubmed/35186005
http://dx.doi.org/10.3389/fgene.2021.780363

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8851471/
https://www.ncbi.nlm.nih.gov/pubmed/35186005
http://dx.doi.org/10.3389/fgene.2021.780363

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