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Article

A synonymous genetic alteration of LMX1B in a family with nail-patella syndrome.

The Korean journal of internal medicine - 1 Sept 2009

Ham Joo Ho, Shin Seok Joon, Joo Kyu Re, Park Sung Min, Sung Hye Young, Kim Joong Seok, Choi Jin Soo, Choi Yeong Jin, Song Ho Cheol, Choi Eui Jin

Abstract excerpt

The gene responsible for nail-patella syndrome, LMX1B, has recently been identified on chromosome 9q. Here we present a patient with nail-patella syndrome and an autosomal dominant pattern of inheritance. A 17-year-old girl visited our clinic for the evaluation and treatment of proteinuria. She had dystrophic nails, palpable iliac horns, and hypoplastic patellae. Electron microscopy of a renal biopsy showed...

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Identifiers

PMID: 19721866
DOI: 10.3904/kjim.2009.24.3.274
PMCID: PMC2732789

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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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