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  • Title: A familial case of nail patella syndrome with a heterozygous in-frame indel mutation in the LIM domain of LMX1B.
    Author: Mukai M, Fujita H, Umegaki-Arao N, Sasaki T, Yasuda-Sekiguchi F, Isojima T, Kitanaka S, Amagai M, Kubo A.
    Journal: J Dermatol Sci; 2018 Apr; 90(1):90-93. PubMed ID: 29290531.
    Abstract:
    Nail patella syndrome is a autosomal dominant disorder caused by a genetic alteration in LMX1B. We identified a novel heterozygous in-frame indel mutation of LMX1B in a family of Nail patella syndrome. Impaired transcriptional activity but not dominant negative effect of mutant LMX1B were revealed using a transcriptional reporter assay, indicating that the mutation caused nail patella syndrome in this family via haploinsufficiency of the transcriptional activity of LMX1B.
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