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

    277 Citations (Scopus)
    Original languageEnglish
    Pages (from-to)1341-1348
    Number of pages8
    JournalAmerican Journal of Human Genetics
    Volume70
    Issue number5
    DOIs
    Publication statusPublished - 2002

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