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Nail-patella syndrome with nephropathy in a de novo LMX1B mutation: triangular lunula of the thumb and lack of finger creases as clues.

Pediatric nephrology (Berlin, Germany) - 1 Sept 2024

Banno Yoshinori, Ikemiyagi Masako, Hamada Riku, Nozu Kandai, Matsuoka Kentaro, Kamimaki Isamu

Abstract excerpt

Nail-patella syndrome (NPS) is an autosomal dominant disease caused mostly by mutations in the LMX1B gene and is characterized by hypoplastic nails, hypoplastic patella, elbow deformities, glaucoma, and nephropathy, sometimes leading to kidney failure. The combination and the severity of symptoms vary greatly from patient to patient. Because a kidney biopsy may show nonspecific findings, patients with nephropathy...

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PMID: 38478172
DOI: 10.1007/s00467-024-06344-2

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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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