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Mutations in the leukemia inhibitory factor receptor (LIFR) gene and Lifr deficiency cause urinary tract malformations.
Kosfeld A, Brand F, Weiss AC, Kreuzer M, Goerk M, Martens H, Schubert S, Schäfer AK, Riehmer V, Hennies I, Bräsen JH, Pape L, Amann K, Krogvold L, Bjerre A, Daniel C, Kispert A, Haffner D, Weber RG. Kosfeld A, et al. Among authors: schafer ak. Hum Mol Genet. 2017 May 1;26(9):1716-1731. doi: 10.1093/hmg/ddx086. Hum Mol Genet. 2017. PMID: 28334964
Whole-exome sequencing identifies mutations of TBC1D1 encoding a Rab-GTPase-activating protein in patients with congenital anomalies of the kidneys and urinary tract (CAKUT).
Kosfeld A, Kreuzer M, Daniel C, Brand F, Schäfer AK, Chadt A, Weiss AC, Riehmer V, Jeanpierre C, Klintschar M, Bräsen JH, Amann K, Pape L, Kispert A, Al-Hasani H, Haffner D, Weber RG. Kosfeld A, et al. Among authors: schafer ak. Hum Genet. 2016 Jan;135(1):69-87. doi: 10.1007/s00439-015-1610-1. Epub 2015 Nov 16. Hum Genet. 2016. PMID: 26572137
22 results