李小英

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

<title>Abstract</title> <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 chang...