Clinical characteristics and genetic profile of children with WDR72-associated distal renal tubular acidosis: a nationwide experience.

doi:10.1007/s00467-024-06478-3

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Clinical characteristics and genetic profile of children with WDR72-associated distal renal tubular acidosis: a nationwide experience.

Pediatric nephrology (Berlin, Germany) - 1 Feb 2025

Deepthi Bobbity, Krishnasamy Sudarsan, Krishnamurthy Shivakumar, Khandelwal Priyanka, Sinha Aditi, Hari Pankaj, Jaikumar Rohitha, Agrawal Prajal, Saha Abhijeet, Deepthi R V, Agarwal Indira, Sinha Rajiv, Venkatachari Mahesh, Shah Mehul A, Bhatt Girish Chandra, Krishnan Balasubramanian, Vasudevan Anil, Bagga Arvind, Krishnamurthy Sriram

Abstract excerpt

BACKGROUND: Limited data, primarily from small case series, exist regarding the clinical profile, genetic variants, and outcomes of WDR72-associated distal renal tubular acidosis (WDR72-dRTA). METHODS: Our study enrolled children diagnosed with WDR72-dRTA below 18 years of age from 9 Indian centers and analyzed their clinical characteristics, genetic profiles, and outcomes. Potential genotype-phenotype...

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PMID: 39150521
DOI: 10.1007/s00467-024-06478-3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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