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

    279 Citations (Scopus)
    Original languageEnglish
    Pages (from-to)1341-1348
    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, N., Chung, P., Ryynänen, M., Jabs, E. W., Bale, S. J., DiGiovanna, J. J., 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, 70(5), 1341-1348. https://doi.org/10.1086/339986