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Mechanisms of pathogenicity and the quest for genetic modifiers of kidney disease in branchiootorenal syndrome
Sebastian Sewerin, Charlotte Aurnhammer, Cene Skubic, Kaja Blagotinšek Cokan, Jera Jeruc, Damjana Rozman, Frederick Pfister, Katalin Dittrich, Brigitte Mayer, Ria Schönauer
Izvirni znanstveni članek
Oznake: branchiootorenal syndrome;chronic kidney disease;modifier genes;patient-derived fibroblasts;phenotypic heterogeneity;
Background Branchiootorenal (BOR) syndrome is an autosomal dominant disorder caused by pathogenic EYA1 variants and clinically characterized by auricular malformations with hearing loss, branchial arch anomalies, and congenital anomalies of the kidney and urinary tract (CAKUT). BOR phenotypes are hi ...
Leto: 2024 Vir: Medicinska fakulteta (UL MF)
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