Improving genetic diagnostic yield in a large cohort of children with rare vascular anomalies or PIK3CA-related overgrowth spectrum
提高罕见血管畸形或PIK3CA相关过度生长谱系儿童大队列的基因诊断率
期刊:Genetics in Medicine Open
影响因子:
doi:10.1016/j.gimo.2023.100837
Green, Timothy E; Garza, Denisse; Brown, Natasha J; de Silva, Michelle G; Bennett, Mark F; Tubb, Caitlin; Phillips, Roderic J; MacGregor, Duncan; Robertson, Susan J; Bekhor, Phillip; Simpson, Jodie; Penington, Anthony J; Hildebrand, Michael S