A recurrent, de novo pathogenic variant in ARPC4 disrupts actin filament formation and causes microcephaly and speech delay
ARPC4基因中一种反复出现的新生致病变异会破坏肌动蛋白丝的形成,导致小头畸形和语言发育迟缓。
期刊:HGG Advances
影响因子:3.6
doi:10.1016/j.xhgg.2021.100072
Laboy Cintron, Dianne; Muir, Alison M; Scott, Abbey; McDonald, Marie; Monaghan, Kristin G; Santiago-Sim, Teresa; Wentzensen, Ingrid M; De Luca, Chiara; Brancati, Francesco; Harris, David J; Goueli, Cecilia; Stottmann, Rolf; Prada, Carlos E; Biderman Waberski, Marta; Mefford, Heather C