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Article

Functional characterization of LMX1B mutations associated with nail-patella syndrome.

Pediatric research - 1 Jun 2005

Sato Utako, Kitanaka Sachiko, Sekine Takashi, Takahashi Shori, Ashida Akira, Igarashi Takashi

Abstract excerpt

Nail-patella syndrome (NPS) is an autosomal dominant disease characterized by dysplastic nails, absent or hypoplastic patellae, elbow dysplasia, and nephropathy. Recently, it was shown that NPS is the result of heterozygous mutations in the LIM-homeodomain gene, LMX1B. Subsequently, many mutations of the LMX1B gene have been reported in NPS patients. However, functional analyses of the mutant proteins have been...

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Identifiers

PMID: 15774843
DOI: 10.1203/01.PDR.0000157674.63621.2C

Genes

NPS

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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