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Autosomal Recessive Renal Tubular Dysgenesis Caused by a Founder Mutation of Angiotensinogen

20 Aug 2020

Abstract excerpt

Introduction Autosomal recessive renal tubular dysgenesis (ARRTD) caused by inactivation mutations in AGT , REN , ACE , and AGTR is a very rare but fatal disorder with an unknown prevalence. Methods We report 6 Taiwanese individuals with ARRTD from 6 unrelated families diagnosed by renal histology. Clinical features, outcome, and prevalence of carrier heterozygosity were examined. Results All patients exhibited...

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PMID: 33163725
DOI: 10.1016/j.ekir.2020.08.011

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