An attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequences
三位无血缘关系的个体中，HRAS c.179G>A (p.Gly60Asp) 突变的 Costello 综合征表型减弱，与罕见的功能后果相关
期刊:American Journal of Medical Genetics Part A
影响因子:1.7
doi:10.1002/ajmg.a.37128
Karen W Gripp, Katia Sol-Church, Patroula Smpokou, Gail E Graham, David A Stevenson, Heather Hanson, David H Viskochil, Laura C Baker, Bridget Russo, Nick Gardner, Deborah L Stabley, Verena Kolbe, Georg Rosenberger
