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A novel mutation in LMX1B gene in a newborn with nail‐patella syndrome: Clinical and dermoscopic findings
Author(s) -
Tognetti Linda,
Baldassarri Margherita,
Fava Francesca,
Provvidenziale Luca,
Cinotti Elisa,
Renieri Alessandra,
Rubegni Pietro
Publication year - 2020
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/pde.14337
Subject(s) - medicine , nail (fastener) , exon , patella , mutation , thumbnail , dermatology , genetics , gene , anatomy , biology , materials science , artificial intelligence , computer science , metallurgy , image (mathematics)
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.