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Article

A novel mutation in LMX1B gene in a newborn with nail-patella syndrome: Clinical and dermoscopic findings.

Pediatric dermatology - 1 Nov 2020

Tognetti Linda, Baldassarri Margherita, Fava Francesca, Provvidenziale Luca, Cinotti Elisa, Renieri Alessandra, Rubegni Pietro

Abstract excerpt

We report on a 3-month-old female patient presenting with bilateral anonychia of the thumbnails and hyponychia of the index nails. Clinico-dermoscopic examination revealed triangular lunulae in all fingernails. Sequence analysis of LMX1B gene identified a novel heterozygous de novo mutation within exon 2, pathogenetic for a nail-patella syndrome.

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Identifiers

PMID: 32892417
DOI: 10.1111/pde.14337

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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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