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...

Descripción completa

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

Internet

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

Ejemplares similares