A novel mutation in LMX1B gene in a newborn with nail-patella syndrome: Clinical and dermoscopic findings.
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...
Paper Details
Title
A novel mutation in LMX1B gene in a newborn with nail-patella syndrome: Clinical and dermoscopic findings.
Published Date
Sep 6, 2020
Journal
Volume
37
Issue
6
Pages
1205 - 1206
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Notes
History