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Article

Mutations in the leukemia inhibitory factor receptor (LIFR) gene and Lifr deficiency cause urinary tract malformations.

Human molecular genetics - 1 May 2017

Kosfeld Anne, Brand Frank, Weiss Anna-Carina, Kreuzer Martin, Goerk Michaela, Martens Helge, Schubert Stephanie, Schäfer Anne-Kathrin, Riehmer Vera, Hennies Imke, Bräsen Jan Hinrich, Pape Lars, Amann Kerstin, Krogvold Lars, Bjerre Anna, Daniel Christoph, Kispert Andreas, Haffner Dieter, Weber Ruthild G

Abstract excerpt

Congenital anomalies of the kidneys and urinary tract (CAKUT) are the most common cause of chronic kidney disease in children. As CAKUT is a genetically heterogeneous disorder and most cases are genetically unexplained, we aimed to identify new CAKUT causing genes. Using whole-exome sequencing and trio-based de novo analysis, we identified a novel heterozygous de novo frameshift variant in the leukemia inhibitory...

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Source

Identifiers

PMID: 28334964
DOI: 10.1093/hmg/ddx086

Genes

LIFR
LIF
STAT3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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