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Article

Renal phenotype in heterozygous Lmx1b knockout mice (Lmx1b+/-) after unilateral nephrectomy.

Transgenic research - 1 Dec 2007

Endele Sabine, Klein Sabine, Richter Sabine, Molter Tina, Amann Kerstin, Klanke Bernd, Witzgall Ralph, Johnson Randy L, Hilgers Karl F, Winterpacht Andreas

Abstract excerpt

The nail-patella syndrome (NPS) is a rare autosomal-dominant disorder which is caused by loss-of-function mutations in the transcription factor LMX1B. NPS is characterized by dysplastic nails, absent or hypoplastic patellae, minor skeletal abnormalities and nephropathy (in 20-40% of the cases), which is the most severe aspect of the disorder. The current data suggest that genetic modifiers in the outbred human...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17657578
DOI: 10.1007/s11248-007-9118-7

Genes

NPS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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