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Article

Interaction of the LMX1B and PAX2 gene products suggests possible molecular basis of differential phenotypes in Nail-Patella syndrome.

European journal of human genetics : EJHG - 1 Jun 2005

Marini Monica, Giacopelli Francesca, Seri Marco, Ravazzolo Roberto

Abstract excerpt

The LMX1B gene, encoding a protein involved in limb, kidney and eye development, is mutated in patients affected by Nail-Patella syndrome. Inter- and intrafamilial variability is common in this disorder for skeletal abnormalities, presence and severity of nephropathy and ocular anomalies. Phenotypic variability might depend on interactions of the LMX1B causative gene with other genes during development of both...

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Identifiers

PMID: 15785774
DOI: 10.1038/sj.ejhg.5201405

Genes

PAX2

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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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