Chronic Granulomatous Disease.
Leiding JW, Holland SM.
Leiding JW, et al.
2012 Aug 9 [updated 2022 Apr 21]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024.
2012 Aug 9 [updated 2022 Apr 21]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024.
PMID: 22876374
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Review.
DIAGNOSIS/TESTING: The diagnosis of CGD is established in a proband with suggestive findings by identification of pathogenic variant(s) in one of six genes that encode or permit assembly of the subunits of phagocyte NADPH oxidase: biallelic pathogenic variants in CYBA, CYBC1, NCF …
DIAGNOSIS/TESTING: The diagnosis of CGD is established in a proband with suggestive findings by identification of pathogenic variant(s) in o …