-associated neuromuscular disorder and phenotypic blending due to paternal UPD6.
作者信息
Watts Laura M, Bunyan David J, Giacopuzzi Edoardo, Walker Susan, Gazdagh Gabriella, Thomas N Simon, Straub Volker, Childs Anne-Marie, Forsyth Joan, Vogt Julie, Khan Shagufta, Willis Tracey A, Taylor Jenny C, Pagnamenta Alistair T
机构信息
Oxford Biomedical Research Centre, Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK.
Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 7HE, UK.
出版信息
Brain Commun. 2024 Sep 25;6(5):fcae330. doi: 10.1093/braincomms/fcae330. eCollection 2024.
Abstract
摘要
Zotero 插件