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Phenotypic variability in distal acidification defects associated with WDR72 mutations

Pediatric nephrology (Berlin, Germany), Vol. 36, Issue 4, Pages 881-887, 2020

PMID: 33033857

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.

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