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

279 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

Access to Document

10.1086/339986

https://www.scopus.com/inward/record.uri?eid=2-s2.0-18344395853&doi=10.1086%2f339986&partnerID=40&md5=8872f65d06947b1e2e61e9fa8f5c7c9a

Cite this

Richard, G., Rouan, F., Willoughby, C. E., Brown, N., Chung, P., Ryynänen, M., Jabs, E. W., Bale, S. J., DiGiovanna, J. J., Uitto, J., & 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

@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",

note = "Cited By :265 Export Date: 6 September 2018",

year = "2002",

doi = "10.1086/339986",

language = "English",

volume = "70",

pages = "1341--1348",

journal = "American Journal of Human Genetics",

issn = "0002-9297",

publisher = "Elsevier",

number = "5",

}

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

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 -