article_metadata: Min Xie Jiangyang Xue Yuxin Zhang Ying Zhou Qi Yu Haibo Li Qiong Li
article_metadata: 10.3389/fgene.2023.1248544
article_metadata: Front Genet
article_metadata: 2023 Sep 7:14:1248544.
article_metadata: case report cryptic balanced translocation multiple anomalies optical genome mapping unbalanced chromosomal rearrangements
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/37745854/
article_metadata: Case Reports
article_metadata: PMC10512417
article_metadata: 37745854
article_metadata: Combination of trio-based whole exome sequencing and optical genome mapping reveals a cryptic balanced translocation that causes unbalanced chromosomal rearrangements in a family with multiple anomalies
article_metadata: 2023