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Article

Mutation analysis of LMX1B gene in nail-patella syndrome patients.

American journal of human genetics - 1 Dec 1998

McIntosh I, Dreyer S D, Clough M V, Dunston J A, Eyaid W, Roig C M, Montgomery T, Ala-Mello S, Kaitila I, Winterpacht A, Zabel B, Frydman M, Cole W G, Francomano C A, Lee B

Abstract excerpt

Nail-patella syndrome (NPS), a pleiotropic disorder exhibiting autosomal dominant inheritance, has been studied for >100 years. Recent evidence shows that NPS is the result of mutations in the LIM-homeodomain gene LMX1B. To determine whether specific LMX1B mutations are associated with different aspects of the NPS phenotype, we screened a cohort of 41 NPS families for LMX1B mutations. A total of 25 mutations were...

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Identifiers

PMID: 9837817
DOI: 10.1086/302165
PMCID: PMC1377636

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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