Fetal whole exome sequencing identifies mutations in the ERCC2(XPD) gene associated with severe congenital ichthyosis and dysmorphic features.

M. Miguet , J. Thevenon , V. Laugel , A. Bourchany , J. Rivière , E. Schaefer , C. Antal , R. Abida , M. Lefebvre , A-S. Weingertner , V. Kremer , C. Thauvin-Robinet , P. Vabres , F. Morice-Picard , M. Gonzales Loyarte , D. Lipsker , S. Fraitag , J-L. Mandel , H. Dollfus , J. Faivre , N. Calmels , S. El Chehadeh

Prenatal Diagnosis , page 1276-1279 - 2016

@Article{2-MTLB16,
 author = {Miguet, M. and Thevenon, J. and Laugel, V. and Bourchany, A. and Rivi\`ere, J. and Schaefer, E. and Antal, C. and Abida, R. and Lefebvre, M. and Weingertner, A-S. and Kremer, V. and Thauvin-Robinet, C. and Vabres, P. and Morice-Picard, F. and Gonzales Loyarte, M. and Lipsker, D. and Fraitag, S. and Mandel, J-L. and Dollfus, H. and Faivre, J. and Calmels, N. and El Chehadeh, S.},
 title = {Fetal whole exome sequencing identifies mutations in the ERCC2(XPD) gene associated with severe congenital ichthyosis and dysmorphic features.},
 journal = {Prenatal Diagnosis},
 pages = {1276-1279},
 year = {2016},
 x-international-audience = {Yes},
 x-language = {EN},
 url = {http://publis.icube.unistra.fr/2-MTLB16}
}