Article
Phenotypic variability in distal acidification defects associated with WDR72 mutations.
Pediatric nephrology (Berlin, Germany) - 1 Apr 2021
Khandelwal Priyanka, Mahesh V, Mathur Vijay Prakash, Raut Sumantra, Geetha Thenral S, Nair Sandhya, Hari Pankaj, Sinha Aditi, Bagga Arvind
Abstract excerpt
BACKGROUND: Distal renal tubular acidosis (RTA) is typically caused by defects in ATP6V0A4, ATP6V1B1, and SLC4A1, accounting for 60-80% of patients. Genes recently implicated include FOXI1, ATP6V1C2, and WDR72, of which WDR72 is associated with dental enamel defects. METHODS: We describe 4 patients, from three unrelated consanguineous families, with RTA and amelogenesis imperfecta. Distal tubular acidification...
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