@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",
}