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Article

Expanding the Clinical Phenotype of Chronic Granulomatous Disease: a Female Patient with a De Novo Mutation in CYBB.

Journal of clinical immunology - 1 Jan 2021

Wu Eveline Y, Kuehn Hye Sun, Rosenzweig Sergio D, Aksentijevich Ivona, McShane Diana B

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33006108
DOI: 10.1007/s10875-020-00877-5
PMCID: PMC7855407

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Expanding the Clinical Phenotype of Chronic Granulomatous Disease: a Female Patient with a De Novo Mutation in CYBB.PMID 33006108Read ↗

Expanding the Clinical Phenotype of Autosomal Recessive Chronic Granulomatous Disease.Semantic proximity Read ↗

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A new autosomal recessive, heterozygous pair of mutations of CYBA in a patient with chronic granulomatous disease.Semantic proximity Read ↗

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Characterization of six novel mutations in CYBA: the gene causing autosomal recessive chronic granulomatous disease.Semantic proximity Read ↗

Chronic Granulomatous Disease and Myelodysplastic Syndrome in a Patient with a Novel Mutation in CYBB.Semantic proximity Read ↗

Case Report: First report of a novel homozygous nonsense mutation in the CYBA gene causing chronic granulomatous disease.Semantic proximity Read ↗

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Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (first update).Semantic proximity Read ↗

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