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 › peer-review

285 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

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10.1086/339986

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Cite this

@article{d9be16d82af0414eb1daaf56c695bb21,

title = "Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome",

author = "G. Richard and F. Rouan and C.E. Willoughby and Nkecha Brown and P. Chung and M. Ryyn{\"a}nen and E.W. Jabs and S.J. Bale and J.J. DiGiovanna and J. Uitto and L. Russell",

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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 › peer-review

TY - JOUR

T1 - Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome

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.

N1 - Cited By :265 Export Date: 6 September 2018

PY - 2002

Y1 - 2002

U2 - 10.1086/339986

DO - 10.1086/339986

M3 - Article

VL - 70

SP - 1341

EP - 1348

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

SN - 0002-9297

IS - 5

ER -