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Article

Limb and kidney defects in Lmx1b mutant mice suggest an involvement of LMX1B in human nail patella syndrome

1 May 1998

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 9590288
DOI: 10.1038/ng0598-51

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Related research

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Click a neighbor to travelStep 1 · 12 closest

Limb and kidney defects in Lmx1b mutant mice suggest an involvement of LMX1B in human nail patella syndromePMID 9590288Read ↗

Gene symbol: LMX1B. Disease: Nail-patella syndrome.Semantic proximity Read ↗

Nail-patella syndrome.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 ↗

A novel LMX1B nonsense mutation in a family with nail-patella syndrome.Semantic proximity Read ↗

Identification of limb-specific Lmx1b auto-regulatory modules with Nail-patella syndrome pathogenicity.Semantic proximity Read ↗

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

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

Nail-patella syndrome. Overview on clinical and molecular findings.Semantic proximity Read ↗

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

Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome.Semantic proximity Read ↗

Identification of limb-specific <i>Lmx1b</i> auto-regulatory modules with Nail-Patella Syndrome pathogenicitySemantic 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 ↗

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