Adiratna Mat Ripen Mei Yee Chiow Prakash Rao Rama Rao Saharuddin Bin Mohamad
10.3389/fimmu.2021.778133
Front Immunol
2021 Nov 4;12:778133.
williams-beuren syndrome (wbs) blended phenotypes chronic granulomatous disease (cgd) copy number variation (cnv) dual molecular diagnosis whole exome sequencing (wes)
CC BY
https://pubmed.ncbi.nlm.nih.gov/34804071/
Exome Sequencing Granulomatous Disease, Chronic / genetics NADPH Oxidases / genetics Williams Syndrome / genetics
Exome Sequencing Granulomatous Disease, Chronic / genetics NADPH Oxidases / genetics Williams Syndrome / genetics Case Reports Research Support, Non-U.S. Gov't Child Chromosome Deletion DNA Copy Number Variations Female Gene Dosage Genetic Predisposition to Disease Granulomatous Disease, Chronic / diagnosis Granulomatous Disease, Chronic / immunology Granulomatous Disease, Chronic / therapy Humans Mutation Phenotype Predictive Value of Tests Williams Syndrome / diagnosis Williams Syndrome / immunology Williams Syndrome / therapy NADPH Oxidases neutrophil cytosolic factor 1
PMC8599285
34804071
Revealing Chronic Granulomatous Disease in a Patient With Williams-Beuren Syndrome Using Whole Exome Sequencing
2021