Identification of a novel frameshift mutation in theEDARgene causing autosomal dominant hypohidrotic ectodermal dysplasia

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

    Research output: Contribution to journalArticle

    6 Citations (Scopus)
    LanguageEnglish
    Pages1032-1034
    JournalJournal of the European Academy of Dermatology and Venereology
    Volume29
    Issue number5
    DOIs
    Publication statusAccepted/In press - 18 Mar 2014

    Keywords

    • genetics
    • EDAR
    • ectodermal dysplasia

    Cite this

    Callea, M. ; Willoughby, Colin ; Nieminen, P. ; Di Stazio, M. ; Bellacchio, E. ; Giglio, S. ; Sani, I. ; Vinciguerra, A. ; Maglione, M. ; Tadini, G. ; Clarich, G. / Identification of a novel frameshift mutation in theEDARgene causing autosomal dominant hypohidrotic ectodermal dysplasia. In: Journal of the European Academy of Dermatology and Venereology. 2014 ; Vol. 29, No. 5. pp. 1032-1034.
    @article{ecccc683796b44dca6fa2f71f6ccdb7b,
    title = "Identification of a novel frameshift mutation in theEDARgene causing autosomal dominant hypohidrotic ectodermal dysplasia",
    keywords = "genetics, EDAR, ectodermal dysplasia",
    author = "M. Callea and Colin Willoughby and P. Nieminen and {Di Stazio}, M. and E. Bellacchio and S. Giglio and I. Sani and A. Vinciguerra and M. Maglione and G. Tadini and G. Clarich",
    year = "2014",
    month = "3",
    day = "18",
    doi = "10.1111/jdv.12457",
    language = "English",
    volume = "29",
    pages = "1032--1034",
    journal = "Journal of the European Academy of Dermatology and Venereology",
    issn = "0926-9959",
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    Callea, M, Willoughby, C, Nieminen, P, Di Stazio, M, Bellacchio, E, Giglio, S, Sani, I, Vinciguerra, A, Maglione, M, Tadini, G & Clarich, G 2014, 'Identification of a novel frameshift mutation in theEDARgene causing autosomal dominant hypohidrotic ectodermal dysplasia', Journal of the European Academy of Dermatology and Venereology, vol. 29, no. 5, pp. 1032-1034. https://doi.org/10.1111/jdv.12457

    Identification of a novel frameshift mutation in theEDARgene causing autosomal dominant hypohidrotic ectodermal dysplasia. / Callea, M.; Willoughby, Colin; Nieminen, P.; Di Stazio, M.; Bellacchio, E.; Giglio, S.; Sani, I.; Vinciguerra, A.; Maglione, M.; Tadini, G.; Clarich, G.

    In: Journal of the European Academy of Dermatology and Venereology, Vol. 29, No. 5, 18.03.2014, p. 1032-1034.

    Research output: Contribution to journalArticle

    TY - JOUR

    T1 - Identification of a novel frameshift mutation in theEDARgene causing autosomal dominant hypohidrotic ectodermal dysplasia

    AU - Callea, M.

    AU - Willoughby, Colin

    AU - Nieminen, P.

    AU - Di Stazio, M.

    AU - Bellacchio, E.

    AU - Giglio, S.

    AU - Sani, I.

    AU - Vinciguerra, A.

    AU - Maglione, M.

    AU - Tadini, G.

    AU - Clarich, G.

    PY - 2014/3/18

    Y1 - 2014/3/18

    KW - genetics

    KW - EDAR

    KW - ectodermal dysplasia

    U2 - 10.1111/jdv.12457

    DO - 10.1111/jdv.12457

    M3 - Article

    VL - 29

    SP - 1032

    EP - 1034

    JO - Journal of the European Academy of Dermatology and Venereology

    T2 - Journal of the European Academy of Dermatology and Venereology

    JF - Journal of the European Academy of Dermatology and Venereology

    SN - 0926-9959

    IS - 5

    ER -