Whole-Exome Sequencing (WES) results of 50 patients with chronic kidney diseases: a perspective of Alport syndrome.
Cüneyd YavaşCemal UnEvrim ÇelebiAlper GezdiriciMustafa DoğanEzgi Gökpinar İliTunay DoğanNehir Özdemir ÖzgentürkPublished in: Revista da Associacao Medica Brasileira (1992) (2022)
Our results suggest that in heterogeneous diseases such as CKD, WES analysis enables accurate identification of underlying molecular defects promptly. Although CKD accounts for 10-14% of all renal dysfunction, molecular genetic diagnosis is necessary for optimal long-term treatment, prognosis, and effective genetic counseling. .