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Article

Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome.

Nature genetics - 1 May 1998

Dreyer S D, Zhou G, Baldini A, Winterpacht A, Zabel B, Cole W, Johnson R L, Lee B

Abstract excerpt

The LIM-homeodomain protein Lmx1b plays a central role in dorso-ventral patterning of the vertebrate limb. Targeted disruption of Lmx1b results in skeletal defects including hypoplastic nails, absent patellae and a unique form of renal dysplasia (see accompanying manuscript by H. Chen et al.; ref. 2). These features are reminiscent of the dominantly inherited skeletal malformation nail patella syndrome (NPS). We...

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Source

Identifiers

PMID: 9590287
DOI: 10.1038/ng0598-47

Genes

NPS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

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Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome.PMID 9590287Read ↗

Restricted distribution of loss-of-function mutations within the LMX1B genes of nail-patella syndrome patients.Semantic proximity Read ↗

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

Loss-of-Function Mutations in the LIM-Homeodomain Gene, LMX1B, in Nail-Patella SyndromeSemantic proximity Read ↗

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

Nail-patella syndrome: identification of mutations in the LMX1B gene in Dutch families.Semantic proximity Read ↗

Functional characterization of LMX1B mutations associated with nail-patella syndrome.Semantic proximity Read ↗

Nail-patella syndrome.Semantic proximity Read ↗

Spectrum of LMX1B mutations: from nail-patella syndrome to isolated nephropathy.Semantic proximity Read ↗

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

Transcriptional induction of slit diaphragm genes by Lmx1b is required in podocyte differentiationSemantic proximity Read ↗

Transcriptional induction of slit diaphragm genes by Lmx1b is required in podocyte differentiationSemantic proximity Read ↗

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

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