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

Clin Case Rep. 2020 Sep 29;8(12):3184-3188. doi: 10.1002/ccr3.3381. eCollection 2020 Dec.

Abstract

Detecting clinical grade CNV based on WES is being improved in the NGS era.

Keywords: CUL4B; Cabezas syndrome; XLID; intellectual disability.

Publication types

  • Case Reports