Phenotypic variability in distal acidification defects associated with WDR72 mutations
Priyanka Khandelwal, V.B. Mahesh, Vijay Prakash Mathur, Sumantra Raut, Thenral S. Geetha, Sandhya Nair, Pankaj Hari, Aditi Sinha, Arvind Bagga
Topics & Concepts
NephrocalcinosisMedicineHypercalciuriaMetabolic acidosisInternal medicineDistal renal tubular acidosisRenal tubular acidosisEndocrinologyAminoaciduriaHypokalemiaTubulopathyFludrocortisoneFurosemideCompound heterozygosityAcidosisUrineKidney diseaseMutationGeneticsHydrocortisoneKidneyBiologyGeneBone and Dental Protein StudiesParathyroid Disorders and TreatmentsPancreatic function and diabetes