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Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract.
J Am Soc Nephrol. 2018 Sep;29(9):2348-2361. doi: 10.1681/ASN.2017121265. Epub 2018 Aug 24.
J Am Soc Nephrol. 2018.
PMID: 30143558
Free PMC article.
Phenotype expansion of heterozygous FOXC1 pathogenic variants toward involvement of congenital anomalies of the kidneys and urinary tract (CAKUT).
Wu CW, Mann N, Nakayama M, Connaughton DM, Dai R, Kolvenbach CM, Kause F, Ottlewski I, Wang C, Klämbt V, Seltzsam S, Lai EW, Selvin A, Senguttuva P, Bodamer O, Stein DR, El Desoky S, Kari JA, Tasic V, Bauer SB, Shril S, Hildebrandt F.
Wu CW, et al. Among authors: selvin a.
Genet Med. 2020 Oct;22(10):1673-1681. doi: 10.1038/s41436-020-0844-z. Epub 2020 Jun 1.
Genet Med. 2020.
PMID: 32475988
Free PMC article.
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