article_metadata: Qianqian Li Xiaofan Zhu Chenguang Yu Lin Shang Ranran Li Xia Wang Yaping Yang Jingjing Meng Xiangdong Kong
article_metadata: 10.3389/fgene.2021.780363
article_metadata: Front Genet
article_metadata: 2022 Feb 3;12:780363.
article_metadata: chromosome 12 external ophthalmoplegia with rib and vertebral anomalies homozygous mutation paternal uniparental isodisomy the myogenic factor 5 gene trio-based exome sequencing
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/35186005/
article_metadata: Case Reports
article_metadata: PMC8851471
article_metadata: 35186005
article_metadata: 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
article_metadata: 2022