Reverse phenotyping facilitates disease allele calling in exome sequencing of patients with CAKUT

Reverse phenotyping facilitates disease allele calling in exome sequencing of patients with CAKUT

Purpose: Congenital anomalies of the kidneys and urinary tract (CAKUT) constitute the leading cause of chronic kidney disease in children. In total, 174 monogenic causes of isolated or syndromic CAKUT are known. However, syndromic features may be overlooked when the initial clinical diagnosis of CAK...

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Main Authors: Awad, H.S (Author), Bauer, S.B (Author), Baum, M.A (Author), Buerger, F. (Author), Connaughton, D.M (Author), Daga, A. (Author), Dai, R. (Author), Daouk, G.H (Author), Deutsch, K. (Author), Eid, L.A (Author), El Desoky, S. (Author), Fathy, H.M (Author), Ferguson, M.A (Author), Hildebrandt, F. (Author), Kari, J.A (Author), Kause, F. (Author), Klämbt, V. (Author), Kolvenbach, C.M (Author), Lai, E.W (Author), Majmundar, A.J (Author), Mane, S.M (Author), Mann, N. (Author), Mao, Y. (Author), Nakayama, M. (Author), Nicolas-Frank, C. (Author), Onuchic-Whitford, A.C (Author), Ottlewski, I. (Author), Pantel, D. (Author), Rodig, N.M (Author), Salmanullah, D. (Author), Schierbaum, L. (Author), Schneider, R. (Author), Schneider, S. (Author), Seltzsam, S. (Author), Shalaby, M. (Author), Shril, S. (Author), Soliman, N.A (Author), Somers, M.J.G (Author), Stein, D.R (Author), Tasic, V. (Author), Traum, A.Z (Author), Wang, C. (Author), Wu, C.-H.W (Author), Yousef, K. (Author), Zheng, B. (Author)
Format: Article
Language:English
Published: Elsevier B.V. 2022
Subjects:
allele
Alleles
Congenital anomalies of the kidneys and urinary tract (CAKUT)
exome
Exome
Exome sequencing
genetics
human
Humans
kidney
Kidney
Monogenic disease causation
Renal developmental gene
urinary tract
Urinary Tract
Urogenital Abnormalities
urogenital tract malformation
vesicoureteral reflux
Vesico-Ureteral Reflux
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