@article{laquerriere:hal-01064295,
TITLE = {Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects},
AUTHOR = {Laqu{\'e}rriere, Annie and Maluenda, J{\'e}rome and Camus, Adrien and Fontenas, Laura and Dieterich, Klaus and Nolent, Flora and Zhou, Ji{\'e} and Monnier, Nicole and Latour, Philippe and Gentil, Damien and H{\'e}ron, Delphine and Desguerres, Isabelle and Landrieu, Pierre and Beneteau, Claire and Delaporte, Benoit and Bellesme, C{\'e}line and Baumann, Clarisse and Capri, Yline and Goldenberg, Alice and Lyonnet, Stanislas and Bonneau, Dominique and Estournet, Brigitte and Quijano-Roy, Susana and Francannet, Christine and Odent, Sylvie and Saint-Frison, Marie-H{\'e}l{\`e}ne and Sigaudy, Sabine and Figarella-Branger, Dominique and Gelot, Antoinette and Mussini, Jean-Marie and Lacroix, Catherine and Drouin-Garraud, Valerie and Malinge, Marie-Claire and Atti{\'e}-Bitach, Tania and Bessieres, Bettina and Bonniere, Maryse and Encha-Razavi, Ferechte and Beaufr{\`e}re, Anne-Marie and Khung-Savatovsky, Suonary and Perez, Marie Jos{\'e} and Vasiljevic, Alexandre and Mercier, Sandra and Roume, Joelle and Trestard, Laetitia and Saugier-Veber, Pascale and Cordier, Marie-Pierre and Layet, Val{\'e}rie and Legendre, Marine and Vigouroux-Castera, Adeline and Lunardi, Joel and Bayes, Monica and Jouk, Pierre S. and Rigonnot, Luc and Granier, Mich{\`e}le and Sternberg, Damien and Warszawski, Josiane and Gut, Ivo and Gonzales, Marie and Tawk, Marcel and Melki, Judith},
URL = {https://hal.science/hal-01064295},
JOURNAL = {Human Molecular Genetics},
PUBLISHER = {Oxford University Press (OUP)},
VOLUME = {23},
NUMBER = {9},
PAGES = {2279--2289},
YEAR = {2014},
DOI = {10.1093/hmg/ddt618},
HAL_ID = {hal-01064295},
HAL_VERSION = {v1},
}
Affichage BibTex