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Article

Clinico-genetic study of nail-patella syndrome.

Journal of Korean medical science - 1 Jan 2009

Lee Beom Hee, Cho Tae-Joon, Choi Hyun Jin, Kang Hee Kyung, Lim In Seok, Park Yong-Hoon, Ha Il Soo, Choi Yong, Cheong Hae Il

Abstract excerpt

Nail-patella syndrome (NPS) is an autosomal dominant disease that typically involves the nails, knees, elbows and the presence of iliac horns. In addition, some patients develop glomerulopathy or adult-onset glaucoma. NPS is caused by loss-of-function mutations in the LMX1B gene. In this study, phenotype-genotype correlation was analyzed in 9 unrelated Korean children with NPS and their affected family members....

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Source

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Identifiers

PMID: 19194568
DOI: 10.3346/jkms.2009.24.S1.S82
PMCID: PMC2633198

Genes

NPS

Provenance

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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