关键词: ADTKD CKD RCS optic disc pits papillorenal syndrome
Mesh : Adult Creatinine / blood DNA Mutational Analysis Female Heterozygote Humans Hyperparathyroidism, Secondary / complications Hyperuricemia / genetics Male Middle Aged Mutation Mutation, Missense PAX2 Transcription Factor / genetics Pedigree Renal Insufficiency, Chronic / complications Renin / genetics Uric Acid / metabolism Uromodulin / genetics Whole Genome Sequencing
来 源:
DOI:10.1002/ajmg.a.61814
PDF(Sci-hub)
PDF(Pubmed)