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Nail-patella syndrome. A case with a de novo mutation in the LMX1B gene not previously described.

Nefrologia : publicacion oficial de la Sociedad Espanola Nefrologia - 1 Jan 2013

Álvarez-Martín Naira, Gamundi María J, Hernan Imma, Carballo Miguel, Luis-Yanes M Isabel, García-Nieto Víctor

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PMID: 23897191
DOI: 10.3265/Nefrologia.pre2013.Apr.12006

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Nail-patella syndrome. A case with a de novo mutation in the LMX1B gene not previously described.PMID 23897191Read ↗

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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 ↗

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

A synonymous genetic alteration of LMX1B in a family with nail-patella syndrome.Semantic proximity Read ↗

Nail Patella Syndrome Diagnosed in a Proband With Renal Failure Through Skeletal and Nail Deformities in Her Offspring: A Case Report of a Novel De Novo Genetic Defect in the LMX1B Gene.Semantic proximity Read ↗

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

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

Nail-Patella Syndrome: clinical and molecular data in 55 families raising the hypothesis of a genetic heterogeneity.Semantic proximity Read ↗

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