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A 22.5 kb deletion in CUL4B causing Cabezas syndrome identified using CNV approach from WES data

Maria López1, Virginia Pérez-Grijalba1, Inmaculada García-Cobaleda2

  • 1Molecular Diagnostics Laboratory Fundación Rioja Salud Logroño Spain.

Clinical Case Reports
|December 28, 2020
PubMed

Keywords:
CUL4BCabezas syndromeXLIDintellectual disability

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Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
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