Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability
Robinow综合征的新型致病变异及定量表型分析:WNT信号通路扰动与表型变异
期刊:HGG Advances
影响因子:3.6
doi:10.1016/j.xhgg.2021.100074
Zhang, Chaofan; Jolly, Angad; Shayota, Brian J; Mazzeu, Juliana F; Du, Haowei; Dawood, Moez; Soper, Patricia Celestino; Ramalho de Lima, Ariadne; Ferreira, Bárbara Merfort; Coban-Akdemir, Zeynep; White, Janson; Shears, Deborah; Thomson, Fraser Robert; Douglas, Sarah Louise; Wainwright, Andrew; Bailey, Kathryn; Wordsworth, Paul; Oldridge, Mike; Lester, Tracy; Calder, Alistair D; Dumic, Katja; Banka, Siddharth; Donnai, Dian; Jhangiani, Shalini N; Potocki, Lorraine; Chung, Wendy K; Mora, Sara; Northrup, Hope; Ashfaq, Myla; Rosenfeld, Jill A; Mason, Kati; Pollack, Lynda C; McConkie-Rosell, Allyn; Kelly, Wei; McDonald, Marie; Hauser, Natalie S; Leahy, Peter; Powell, Cynthia M; Boy, Raquel; Honjo, Rachel Sayuri; Kok, Fernando; Martelli, Lucia R; Filho, Vicente Odone; Genomics England Research Consortium; Muzny, Donna M; Gibbs, Richard A; Posey, Jennifer E; Liu, Pengfei; Lupski, James R; Sutton, V Reid; Carvalho, Claudia M B