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Severe phenotype of chronic granulomatous disease presenting in a female with a de novo mutation in gp91-phox and a non familial, extremely skewed X chromosome inactivation

Mendelian DisorderCytogeneticsMedicineGeneticsGenetic DisorderGenetic EpidemiologyPathologyPublic HealthMonogenic DisordersSevere PhenotypeInborn Error Of ImmunityClinical Genetics