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Article

Could the interaction between LMX1B and PAX2 influence the severity of renal symptoms?

European journal of human genetics : EJHG - 1 Nov 2018

Negrisolo Susanna, Carraro Andrea, Fregonese Giulia, Benetti Elisa, Schaefer Franz, Alberti Marta, Melchionda Salvatore, Fischetto Rita, Giordano Mario, Murer Luisa

Abstract excerpt

Nail Patella syndrome (NPS) is a rare autosomal dominant disease characterized by varying degrees of patella, nail, and elbows dysplasia and also ocular and renal congenital abnormalities. The renal involvement, ranging from hematuria and proteinuria to end-stage renal disease, is present in 22-60% of NPS cases. Heterozygous variants in LMX1B are known to be responsible of NPS and it has been hypothesized that...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 29973660
DOI: 10.1038/s41431-018-0213-4
PMCID: PMC6189091

Genes

NPS
PAX2

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Could the interaction between LMX1B and PAX2 influence the severity of renal symptoms?PMID 29973660Read ↗

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

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