A novel 14q13.1–21.1 deletion identified by CNV-Seq in a patient with brain-lung-thyroid syndrome, tooth agenesis and immunodeficiency
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DOI: 10.1186/s13039-019-0463-z
Abstract: BackgroundChromosome 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 presentationWe performed whole exome… read more here.
Keywords: seq patient; cnv seq; deletion; 14q13 deletion ... See more keywords