7 research outputs found

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

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    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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