Revealing Chronic Granulomatous Disease in a Patient With Williams-Beuren Syndrome Using Whole Exome Sequencing

Revealing Chronic Granulomatous Disease in a Patient With Williams-Beuren Syndrome Using Whole Exome Sequencing

Blended phenotypes exhibited by a patient may present a challenge to the establishment of diagnosis. In this study, we report a seven-year-old Murut girl with unusual features of Williams-Beuren syndrome (WBS), including recurrent infections and skin abscesses. Considering the possibility of a secon...

Full description

Bibliographic Details
Main Authors: Adiratna Mat Ripen, Mei Yee Chiow, Prakash Rao Rama Rao, Saharuddin Bin Mohamad
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-11-01
Series:Frontiers in Immunology
Subjects:
whole exome sequencing (WES)
chronic granulomatous disease (CGD)
Williams-Beuren syndrome (WBS)
copy number variation (CNV)
blended phenotypes
dual molecular diagnosis
Online Access:https://www.frontiersin.org/articles/10.3389/fimmu.2021.778133/full

Internet

https://www.frontiersin.org/articles/10.3389/fimmu.2021.778133/full

Similar Items