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

doi:10.1086/339986

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 journal › Article

277 Citations (Scopus)

Original language	English
Pages (from-to)	1341-1348
Number of pages	8
Journal	American Journal of Human Genetics
Volume	70
Issue number	5
DOIs	https://doi.org/10.1086/339986
Publication status	Published - 2002

Cite this

Richard, G., Rouan, F., Willoughby, C. E., Brown, N., Chung, P., Ryynänen, M., ... 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

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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 journal › Article

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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.

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10.1086/339986

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