Evaluating gene variations in autosomal dominant polycystic kidney disease patients using whole exome sequencing and phenotype to genotype analysis

Autosomal dominant polycystic kidney disease (ADPKD) is the most prevalent hereditary kidney disorder. Between 85% and 90% of cases result from variations in the PKD1 and PKD2 genes. Over 30 genes have been associated with ADPKD, contributing to its heterogeneity. This study aimed to investigate nov...

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Principais autores:	Hande Aypek, Rumeysa Fatma Balaban, Nuseybe Huriyet, Ebrucan Bulut, Gulsah Cecener, Suat Akgur, Orhan Gorukmez, Ufuk Unal, Guven Ozkaya, Alparslan Ersoy, Aysegul Oruc, Cuma Bulent Gul, Abdulmecit Yildiz
Formato:	Artigo
Idioma:	Inglês
Publicado:	Taylor & Francis Group 2025-12-01
Series:	Renal Failure
Assuntos:	Autosomal dominant polycystic kidney disease (ADPKD) PKD1 PKD2 whole exome sequencing (WES)
Acceso en liña:	https://www.tandfonline.com/doi/10.1080/0886022X.2025.2547306
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