Article
[Genetics and genetic counseling].
Giornale italiano di nefrologia : organo ufficiale della Societa italiana di nefrologia - 1 Jan 2000
Izzi Claudia, Liut Francesca, Dallera Nadia, Mazza Cinzia, Magistroni Riccardo, Savoldi Gianfranco, Scolari Francesco
Abstract excerpt
Autosomal Dominant Polycystic Kidney Disease (ADPKD) is the most frequent genetic disease, characterized by progressive development of bilateral renal cysts. Two causative genes have been identified: PKD1 and PKD2. ADPKD phenotype is highly variable. Typically, ADPKD is an adult onset disease. However, occasionally, ADPKD manifests as very early onset disease. The phenotypic variability of ADPKD can be explained...
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