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

277 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

Cite this

Willoughby, C., Russell, L., Uitto, J., Jabs, E. W., Richard, G., Rouan, F., ... DiGiovanna, J. J. (2002). Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia Keratitis-Ichthyosis-Deafness syndrome. The American Journal of Human Genetics, 70(5)(5), 1341-1348. https://doi.org/10.1086/339986