Case report: Genotype-phenotype characteristics of nine novel PKD1 mutations in eight Chinese patients with autosomal dominant polycystic kidney disease
Zhuang J, Aierken A, Yalikun D, Zhang J, Wang X, Ren Y, Tian X, Jiang H. Case report: Genotype-phenotype characteristics of nine novel PKD1 mutations in eight Chinese patients with autosomal dominant polycystic kidney disease. Frontiers In Medicine 2023, 10: 1268307. PMID: 37901409, PMCID: PMC10600478, DOI: 10.3389/fmed.2023.1268307.Peer-Reviewed Case Reports and Technical NotesAutosomal dominant polycystic kidney diseaseDominant polycystic kidney diseaseKidney diseasePolycystic kidney diseaseWhole-exome sequencingNovel mutation sitesDisease progressionNovel PKD1 mutationChronic kidney diseaseRapid disease progressionGene mutationsGenotype-phenotype characteristicsPeripheral blood DNAPersonalized therapeutic strategiesAge of onsetMilder disease phenotypeCommon genetic disorderAutosomal dominant inheritancePolycystic liverADPKD patientsChinese patientsClinical dataTherapeutic strategiesClinical phenotypeEarly onset