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

Related Experiment Video

Updated: Nov 24, 2025

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

8.9K

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

More Related Videos

Immunofluorescence Analysis of Endogenous and Exogenous Centromere-kinetochore Proteins05:35

Immunofluorescence Analysis of Endogenous and Exogenous Centromere-kinetochore Proteins

Published on: March 3, 2016

15.5K
Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants09:16

Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants

Published on: February 21, 2015

20.1K

Related Concept Videos

Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

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.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
18.4K