Dominant de novo DSP mutations cause erythrokeratodermia-cardiomyopathy syndrome
显性新生 DSP 突变导致红斑角化病-心肌病综合征
期刊:Human Molecular Genetics
影响因子:3.1
doi:10.1093/hmg/ddv481
Lynn M Boyden, Chen Y Kam, Angela Hernández-Martín, Jing Zhou, Brittany G Craiglow, Robert Sidbury, Erin F Mathes, Sheilagh M Maguiness, Debra A Crumrine, Mary L Williams, Ronghua Hu, Richard P Lifton, Peter M Elias, Kathleen J Green, Keith A Choate