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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| Main Authors: | , , , |
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| Format: | Article |
| Published: |
Frontiers Media
2021
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| Subjects: | |
| Online Access: | http://eprints.um.edu.my/26608/ |
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| Institution: | Universiti Malaya |