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Article

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

Human mutation - 1 Jan 1999

Clough M V, Hamlington J D, McIntosh I

Abstract excerpt

Nail-patella syndrome (NPS) is a pleiotropic condition characterized by dysplasia of the nails, hypoplasia of the patellae, elbow dysplasia, and progressive kidney disease. The syndrome is inherited in an autosomal dominant manner and has been shown to result from mutations in the LIM-homeodomain encoding LMX1B gene. The LMX1B transcription factor plays a role in defining the development of dorsal-specific...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 10571942
DOI: 10.1002/(SICI)1098-1004(199912)14:6<459::AID-HUMU3>3.0.CO;2-9

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.

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Restricted distribution of loss-of-function mutations within the LMX1B genes of nail-patella syndrome patients.PMID 10571942Read ↗

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