Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia Keratitis-Ichthyosis-Deafness syndrome.

Colin Willoughby, L. Russell, J. Uitto, E.W. Jabs, G. Richard, F. Rouan, N. Brown, P. Chung, M. Ryynanen, S.J. Bale, J.J. DiGiovanna

Research output: Contribution to journalArticle

279 Citations (Scopus)
Original languageEnglish
Pages (from-to)1341-1348
Number of pages8
JournalThe American Journal of Human Genetics
Volume70(5)
Issue number5
DOIs
Publication statusPublished - May 2002

ASJC Scopus subject areas

  • Genetics

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