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.
Tognetti, L., Baldassarri, M., Fava, F., Provvidenziale, L., Cinotti, E., Renieri, A., et al. (2020). A novel mutation in LMX1B gene in a newborn with nail-patella syndrome: Clinical and dermoscopic findings. PEDIATRIC DERMATOLOGY, 37(6), 1205-1206 [10.1111/pde.14337].
A novel mutation in LMX1B gene in a newborn with nail-patella syndrome: Clinical and dermoscopic findings
Tognetti L.;Baldassarri M.;Provvidenziale L.;Cinotti E.;Renieri A.;Rubegni P.
2020-01-01
Abstract
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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https://hdl.handle.net/11365/1117004