A novel INDEL mutation in the EDA gene resulting in a distinct X- linked hypohidrotic ectodermal dysplasia phenotype in an Italian family

M. Callea, P. Nieminen, Colin Willoughby, G. Clarich, I. Yavuz, A. Vinciguerra, M. Di Stazio, S. Giglio, I. Sani, M. Maglione, S. Pensiero, G. Tadini, E. Bellacchio

    Research output: Contribution to journalArticle

    4 Citations (Scopus)
    7 Downloads (Pure)
    Original languageEnglish
    Pages (from-to)341-343
    JournalJournal of the European Academy of Dermatology and Venereology
    Volume30
    Issue number2
    DOIs
    Publication statusAccepted/In press - 30 Sep 2014

    Keywords

    • ectodermal dysplasia
    • EDAR
    • genetics
    • cornea

    Cite this

    Callea, M., Nieminen, P., Willoughby, C., Clarich, G., Yavuz, I., Vinciguerra, A., Di Stazio, M., Giglio, S., Sani, I., Maglione, M., Pensiero, S., Tadini, G., & Bellacchio, E. (Accepted/In press). A novel INDEL mutation in the EDA gene resulting in a distinct X- linked hypohidrotic ectodermal dysplasia phenotype in an Italian family. Journal of the European Academy of Dermatology and Venereology, 30(2), 341-343. https://doi.org/10.1111/jdv.12747