Associated Papers
HSCT in two brothers with CGD arising from mutations in CYBC1 corrects the defect in neutrophil function.
Perez-Heras I et al.
Clinical Immunology (orlando, Fla.), 2021
A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease.
Arnadottir GA et al.
Nature Communications, 2018
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.
Monies D et al.
Human Genetics, 2017
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