OCRL1 Mutations in Dent 2 Patients Suggest a Mechanism for Phenotypic Variability

Background/Aims: Dent disease is an X-linked renal proximal tubulopathy associated with mutations in CLCN5 (Dent 1) or OCRL1 (Dent 2).

Keywords:

• CLCN5
• OCRL
• Tubulopathy
• Oculocerebrorenal syndrome
• Aminoaciduria
• Kidney disease
• Mutation
• Medicine
• Internal medicine
• Dent Disease
• Endocrinology

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