Article
Distal renal tubular acidosis caused by tryptophan-aspartate repeat domain 72 (WDR72) mutations.
Clinical genetics - 1 Nov 2018
Rungroj N, Nettuwakul C, Sawasdee N, Sangnual S, Deejai N, Misgar R A, Pasena A, Khositseth S, Kirdpon S, Sritippayawan S, Vasuvattakul S, Yenchitsomanus P T
Abstract excerpt
Hereditary distal renal tubular acidosis (dRTA) is a rare genetic disease that is caused by mutations in SLC4A1, ATP6V1B1, or ATP6V0A4. However, there are many families with hereditary dRTA in whom the disease-causing genes are unknown. Accordingly, we performed whole exome sequencing and genetic studies of the members of a family with autosomal recessive dRTA of an unknown genetic etiology. Here, we report...
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