Xuyun Hu Jun Liu Ruolan Guo Jun Guo Zhipeng Zhao Wei Li Baoping Xu Chanjuan Hao
10.1186/s13039-019-0463-z
Mol Cytogenet
2019 Dec 19;12:51.
14q13 deletion brain-lung-thyroid syndrome cnv-seq immunodeficiency
CC BY
https://pubmed.ncbi.nlm.nih.gov/31890031/
Case Reports
PMC6924084
31890031
A novel 14q13.1-21.1 deletion identified by CNV-Seq in a patient with brain-lung-thyroid syndrome, tooth agenesis and immunodeficiency
2019