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...

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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

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