Article

Clinical phenotype, family segregation, and follow-up of pediatric distal renal tubular acidosis associated with a homozygous SLC4A1 p.G701D variant

2026-06-29

Abstract excerpt

<title>Abstract</title> <p> <bold>Background</bold> We report a case of SLC4A1-related distal renal tubular acidosis (dRTA) in a child with marked skeletal deformities, confirmed by family segregation analysis, and describe the clinical features, genetic findings, and follow-up changes. <bold>Methods</bold> We retrospectively reviewed the clinical history, laboratory findings, imaging results, genetic testing...

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Literature Corpus work: da774964-0e4e-52f7-b21a-c4e3b8deb201
DOI: 10.21203/rs.3.rs-9963896/v1

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