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