B3GAT3-related disorder with craniosynostosis and bone fragility due to a unique mutation.

Yauy, Kevin; Tran Mau-Them, Frederic; Willems, Marjolaine; Coubes, Christine; Blanchet, Patricia; Herlin, Christian; Taleb Arrada, Ikram; Sanchez, Elodie; Faure, Jean-Michel; Le Gac, Marie-Pascale; Prodhomme, Olivier; Boland, Anne; Meyer, Vincent; Rivière, Jean-Baptiste; Duffourd, Yannis; Deleuze, Jean-François; Guignard, Thomas; Captier, Guillaume; Barat-Houari, Mouna; Genevieve, David.
Genet Med; 20(2): 269-274, 2018 02.
Artigo em Inglês | MEDLINE | ID: mdl-28771243