A novel 14q13.1 –21.1 deletion identified by CNV-Seq in a patient with brain-lung-thyroid syndrome, tooth agenesis and immunodeficiency

Chromosome 14q11-q22 deletion syndrome (OMIM 613457) is a rare genomic disorder. The phenotype heterogeneity depends on the deletion size, breakpoints and genes deleted. Critical genes like FOXG1, NKX2 –1, PAX9 we...

Source: Molecular Cytogenetics - December 19, 2019 Category: Molecular Biology Authors: Xuyun Hu, Jun Liu, Ruolan Guo, Jun Guo, Zhipeng Zhao, Wei Li, Baoping Xu and Chanjuan Hao Tags: Case Report Source Type: research