Genotype and X-chromosome inactivation are associated with disease severity in females with X-linked Alport syndrome

Abstract excerpt

BACKGROUND: Male patients with X-linked Alport syndrome (XLAS) generally develop end-stage kidney disease in early or middle adulthood and show distinct genotype-phenotype correlations. However, female patients show various phenotypes ranging from asymptomatic to severe with no genotype-phenotype correlations. The factors affecting the severity of XLAS in female patients are unclear. Since X-chromosome...

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