Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome

G. Richard, F. Rouan, C.E. Willoughby, Nkecha Brown, P. Chung, M. Ryynänen, E.W. Jabs, S.J. Bale, J.J. DiGiovanna, J. Uitto, L. Russell

    Research output: Contribution to journalArticle

    273 Citations (Scopus)
    LanguageEnglish
    Pages1341-1348
    Number of pages8
    JournalAmerican Journal of Human Genetics
    Volume70
    Issue number5
    DOIs
    Publication statusPublished - 2002

    Cite this

    Richard, G. ; Rouan, F. ; Willoughby, C.E. ; Brown, Nkecha ; Chung, P. ; Ryynänen, M. ; Jabs, E.W. ; Bale, S.J. ; DiGiovanna, J.J. ; Uitto, J. ; Russell, L. / Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome. In: American Journal of Human Genetics. 2002 ; Vol. 70, No. 5. pp. 1341-1348.
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    author = "G. Richard and F. Rouan and C.E. Willoughby and Nkecha Brown and P. Chung and M. Ryyn{\"a}nen and E.W. Jabs and S.J. Bale and J.J. DiGiovanna and J. Uitto and L. Russell",
    note = "Cited By :265 Export Date: 6 September 2018",
    year = "2002",
    doi = "10.1086/339986",
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    Richard, G, Rouan, F, Willoughby, CE, Brown, N, Chung, P, Ryynänen, M, Jabs, EW, Bale, SJ, DiGiovanna, JJ, Uitto, J & Russell, L 2002, 'Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome', American Journal of Human Genetics, vol. 70, no. 5, pp. 1341-1348. https://doi.org/10.1086/339986

    Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome. / Richard, G.; Rouan, F.; Willoughby, C.E.; Brown, Nkecha ; Chung, P.; Ryynänen, M.; Jabs, E.W.; Bale, S.J.; DiGiovanna, J.J.; Uitto, J.; Russell, L.

    In: American Journal of Human Genetics, Vol. 70, No. 5, 2002, p. 1341-1348.

    Research output: Contribution to journalArticle

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    T1 - Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome

    AU - Richard, G.

    AU - Rouan, F.

    AU - Willoughby, C.E.

    AU - Brown, Nkecha

    AU - Chung, P.

    AU - Ryynänen, M.

    AU - Jabs, E.W.

    AU - Bale, S.J.

    AU - DiGiovanna, J.J.

    AU - Uitto, J.

    AU - Russell, L.

    N1 - Cited By :265 Export Date: 6 September 2018

    PY - 2002

    Y1 - 2002

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    JO - American Journal of Human Genetics

    T2 - American Journal of Human Genetics

    JF - American Journal of Human Genetics

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