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 journalArticlepeer-review

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


    • ectodermal dysplasia
    • EDAR
    • genetics
    • cornea

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