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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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Detalles Bibliográficos
Autores principales:	Ripen, Adiratna Mat, Chiow, Mei Yee, Rama Rao, Prakash Rao, Mohamad, Saharuddin Bin
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2021
Materias:	Immunology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8599285/ https://www.ncbi.nlm.nih.gov/pubmed/34804071 http://dx.doi.org/10.3389/fimmu.2021.778133

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