A recurrent de novo MAX p.Arg60Gln variant causes a syndromic overgrowth disorder through differential expression of c-Myc target genes
一种复发的从头 MAX p.Arg60Gln 变异通过 c-Myc 靶基因的差异表达导致综合征性过度生长障碍。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2023.11.010
Harris, Erica L; Roy, Vincent; Montagne, Martin; Rose, Ailsa M S; Livesey, Helen; Reijnders, Margot R F; Hobson, Emma; Sansbury, Francis H; Willemsen, Marjolein H; Pfundt, Rolph; Warren, Daniel; Long, Vernon; Carr, Ian M; Brunner, Han G; Sheridan, Eamonn G; Firth, Helen V; Lavigne, Pierre; Poulter, James A