Article
Prenatal-Onset Autosomal Dominant Polycystic Kidney Disease: Clinical Spectrum and Genetic Complexity of a Pseudo-Recessive Phenotype.
Prenatal diagnosis - 1 Jan 2026
Sharova Margarita, Shumikchina Marina, Prikhodina Larisa, Morozov Sergey, Bulakh Maria, Ryzhkova Oxana, Pustoshilov Dmitry, Semenova Natalia
Abstract excerpt
OBJECTIVE: Renal cystic dysplasia represents a group of disorders involving primary cilia dysfunction. Autosomal dominant polycystic kidney disease (ADPKD) due to PKD1 pathogenic variants typically presents in adulthood; we investigated rare prenatal-onset cases to better understand their genetic basis and clinical implications. METHOD: We performed whole-genome sequencing in trio and long-read sequencing on...
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