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Article

Gene symbol: LMX1B. Disease: Nail-patella syndrome.

Human genetics - 1 Oct 2008

Lin Wei-De, Chen Chih-Ping, Wang Der-Yean, Tsai Fuu-Jen

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 18846612

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Gene symbol: LMX1B. Disease: Nail-patella syndrome.PMID 18846612Read ↗

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Identification of a Novel Missense Mutation in the LMX1B Gene Associated with Nail-Patella Syndrome in a Chinese FamilySemantic proximity Read ↗

Limb and kidney defects in Lmx1b mutant mice suggest an involvement of LMX1B in human nail patella syndromeSemantic proximity Read ↗

Nail-patella syndrome.Semantic proximity Read ↗

A spectrum of LMX1B mutations in Nail-Patella syndrome: new point mutations, deletion, and evidence of mosaicism in unaffected parents.Semantic proximity Read ↗

LMX1B mutations with nails and kneecaps: a new paradigm?Semantic proximity Read ↗

Identification of entire LMX1B gene deletions in nail patella syndrome: evidence for haploinsufficiency as the main pathogenic mechanism underlying dominant inheritance in manSemantic proximity Read ↗

Twenty-two novel LMX1B mutations identified in nail patella syndrome (NPS) patients.Semantic proximity Read ↗

De novo enhancer deletion of LMX1B produces a mild nail-patella clinical phenotype.Semantic proximity Read ↗

Mutation of WIF1: a potential novel cause of a Nail-Patella-like disorder.Semantic proximity Read ↗

The human LMX1B gene: transcription unit, promoter, and pathogenic mutations.Semantic proximity Read ↗

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