Monoallelic pathogenic IFT140 variants are a common cause of autosomal dominant polycystic kidney disease-spectrum phenotype.
Chiara DordoniLetizia ZeniDiego TosoCinzia MazzaFrederica MesciaRoberta CortinovisLaura EconimoGianfranco SavoldiFederico AlbericiFrancesco ScolariClaudia IzziPublished in: Clinical kidney journal (2024)
variants are the third most common cause of the ADPKD-spectrum phenotype in Italy, usually associated with a mild and atypical renal cystic disease.