A novel mutation in  LMX1B  gene in a newborn with nail‐patella syndrome: Clinical and dermoscopic findings | Zendy

Tognetti Linda | Zendy; Baldassarri Margherita | Zendy; Fava Francesca | Zendy; Provvidenziale Luca | Zendy; Cinotti Elisa | Zendy; Renieri Alessandra | Zendy; Rubegni Pietro | Zendy

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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.

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