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

BACKGROUND: 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 were identified. CASE PRESENTATION: We performed whole exome sequencing (WES)...

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Gepubliceerd in:Mol Cytogenet
Hoofdauteurs: Hu, Xuyun, Liu, Jun, Guo, Ruolan, Guo, Jun, Zhao, Zhipeng, Li, Wei, Xu, Baoping, Hao, Chanjuan
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: BioMed Central 2019
Onderwerpen:
Case Report
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6924084/
https://ncbi.nlm.nih.gov/pubmed/31890031
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-019-0463-z
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