Mutations in GJB6 cause hidrotic ectodermal dysplasia

Jérôme Lamartine; Guilherme Munhoz Essenfelder; Zoha Kibar; Isabelle Lanneluc; Edwige Callouet; Dalila Laoudj; Gilles Lemaître; Colette Hand; Susan J. Hayflick; Jonathan Zonana; Stylianos Antonarakis; Uppala Radhakrishna; David P. Kelsell; Arnold L. Christianson; Amandine Pitaval; Vazken Der Kaloustian; Clarke Fraser; Claudine Blanchet-Bardon; Guy A. Rouleau; Gilles Waksman

doi:10.1038/79851

Mutations in GJB6 cause hidrotic ectodermal dysplasia

Jérôme Lamartine, Guilherme Munhoz Essenfelder, Zoha Kibar, Isabelle Lanneluc, Edwige Callouet, Dalila Laoudj, Gilles Lemaître, Colette Hand, Susan J. Hayflick, Jonathan Zonana, Stylianos Antonarakis, Uppala Radhakrishna, David P. Kelsell, Arnold L. Christianson, Amandine Pitaval, Vazken Der Kaloustian, Clarke Fraser, Claudine Blanchet-Bardon, Guy A. Rouleau, Gilles Waksman

Molecular and Medical Genetics

Research output: Contribution to journal › Article › peer-review

225 Scopus citations

Original language	English (US)
Pages (from-to)	142-144
Number of pages	3
Journal	Nature genetics
Volume	26
Issue number	2
DOIs	https://doi.org/10.1038/79851
State	Published - Oct 1 2000

ASJC Scopus subject areas

Genetics

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10.1038/79851

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Lamartine, J., Essenfelder, G. M., Kibar, Z., Lanneluc, I., Callouet, E., Laoudj, D., Lemaître, G., Hand, C., Hayflick, S. J., Zonana, J., Antonarakis, S., Radhakrishna, U., Kelsell, D. P., Christianson, A. L., Pitaval, A., Der Kaloustian, V., Fraser, C., Blanchet-Bardon, C., Rouleau, G. A., & Waksman, G. (2000). Mutations in GJB6 cause hidrotic ectodermal dysplasia. Nature genetics, 26(2), 142-144. https://doi.org/10.1038/79851

Lamartine, J, Essenfelder, GM, Kibar, Z, Lanneluc, I, Callouet, E, Laoudj, D, Lemaître, G, Hand, C, Hayflick, SJ , Zonana, J, Antonarakis, S, Radhakrishna, U, Kelsell, DP, Christianson, AL, Pitaval, A, Der Kaloustian, V, Fraser, C, Blanchet-Bardon, C, Rouleau, GA & Waksman, G 2000, 'Mutations in GJB6 cause hidrotic ectodermal dysplasia', Nature genetics, vol. 26, no. 2, pp. 142-144. https://doi.org/10.1038/79851

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title = "Mutations in GJB6 cause hidrotic ectodermal dysplasia",

author = "J{\'e}r{\^o}me Lamartine and Essenfelder, {Guilherme Munhoz} and Zoha Kibar and Isabelle Lanneluc and Edwige Callouet and Dalila Laoudj and Gilles Lema{\^i}tre and Colette Hand and Hayflick, {Susan J.} and Jonathan Zonana and Stylianos Antonarakis and Uppala Radhakrishna and Kelsell, {David P.} and Christianson, {Arnold L.} and Amandine Pitaval and {Der Kaloustian}, Vazken and Clarke Fraser and Claudine Blanchet-Bardon and Rouleau, {Guy A.} and Gilles Waksman",

note = "Funding Information: We thank the families for participation; E. Denise and S. Dubus for technical assistance; and Foundation Jean Dausset–CEPH, particularly M. Legrand and C. Billon of the CEPH DNA laboratory, for DNA samples used in polymorphism exclusion. This work was supported by grants from Genethon, Association Fran{\c c}aise contre les Myopathies, French MENRT and Swiss National Science Foundation. Funding Information: We thank A.J. Enright for technical advice and P.D. Karp for help and comments. This work was supported by the European Molecular Biology Laboratory and the TMR Programme of the European Commission DGXII (Science, Research and Development). C.A.O. acknowledges further support by the Medical Research Council (UK) and IBM Research.",

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T1 - Mutations in GJB6 cause hidrotic ectodermal dysplasia

AU - Lamartine, Jérôme

AU - Essenfelder, Guilherme Munhoz

AU - Kibar, Zoha

AU - Lanneluc, Isabelle

AU - Callouet, Edwige

AU - Laoudj, Dalila

AU - Lemaître, Gilles

AU - Hand, Colette

AU - Hayflick, Susan J.

AU - Zonana, Jonathan

AU - Antonarakis, Stylianos

AU - Radhakrishna, Uppala

AU - Kelsell, David P.

AU - Christianson, Arnold L.

AU - Pitaval, Amandine

AU - Der Kaloustian, Vazken

AU - Fraser, Clarke

AU - Blanchet-Bardon, Claudine

AU - Rouleau, Guy A.

AU - Waksman, Gilles

N1 - Funding Information: We thank the families for participation; E. Denise and S. Dubus for technical assistance; and Foundation Jean Dausset–CEPH, particularly M. Legrand and C. Billon of the CEPH DNA laboratory, for DNA samples used in polymorphism exclusion. This work was supported by grants from Genethon, Association Française contre les Myopathies, French MENRT and Swiss National Science Foundation. Funding Information: We thank A.J. Enright for technical advice and P.D. Karp for help and comments. This work was supported by the European Molecular Biology Laboratory and the TMR Programme of the European Commission DGXII (Science, Research and Development). C.A.O. acknowledges further support by the Medical Research Council (UK) and IBM Research.

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Mutations in GJB6 cause hidrotic ectodermal dysplasia

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