GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability
GNB5 突变导致常染色体隐性多系统综合征,伴有窦性心动过缓和认知障碍
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2016.06.025
Elisabeth M Lodder, Pasquelena De Nittis, Charlotte D Koopman, Wojciech Wiszniewski, Carolina Fischinger Moura de Souza, Najim Lahrouchi, Nicolas Guex, Valerio Napolioni, Federico Tessadori, Leander Beekman, Eline A Nannenberg, Lamiae Boualla, Nico A Blom, Wim de Graaff, Maarten Kamermans, Dario Coc