Onset mechanism of a female patient with Dent disease 2.
Takayuki OkamotoNana SakakibaraKandai NozuToshiyuki TakahashiAsako HayashiYasuyuki SatoChina NaganoMasafumi MatsuoKazumoto IijimaAtsushi ManabePublished in: Clinical and experimental nephrology (2020)
This is the first report of a female patient clinically and genetically diagnosed with Dent-2 caused by an OCRL heterozygous splicing site variant and skewed XCI. Skewed XCI may be one of the factors associated with phenotypic diversity in female patients with Lowe syndrome and Dent-2.
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