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Article

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

European journal of human genetics : EJHG - 1 Jan 2016

Ghoumid Jamal, Petit Florence, Holder-Espinasse Muriel, Jourdain Anne-Sophie, Guerra José, Dieux-Coeslier Anne, Figeac Martin, Porchet Nicole, Manouvrier-Hanu Sylvie, Escande Fabienne

Abstract excerpt

Nail-Patella Syndrome (NPS) is a rare autosomal dominant condition comprising nail and skeletal anomalies. Skeletal features include dysplastic patellae and iliac horns, as well as scapula and elbow dysplasia. Nephropathy and glaucoma or intra-ocular hypertension can sometimes be present. NPS is due to variants affecting function in LMX1B, which encodes a LIM-homeodomain protein critical for limb, kidney and eye...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 25898926
DOI: 10.1038/ejhg.2015.77
PMCID: PMC4795216

Genes

NPS

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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