Phenotypic Variability and Paternal Inheritance of a CHD8 Variant Causing Intellectual Developmental Disorder With Autism and Macrocephaly Confirmed by Epigenetic and Structural Analyses
通过表观遗传学和结构分析证实，CHD8变异体导致智力发育障碍伴自闭症和巨头畸形的表型变异性和父系遗传
期刊:Molecular Genetics & Genomic Medicine
影响因子:1.6
doi:10.1002/mgg3.70165
Furuta, Yutaka; Ezell, Kimberly M; Hamid, Rizwan; Cogan, Joy D; Cassini, Thomas A; Rives, Lynette; McMinn, Ashley; Shah, Shailee; Peltier, Amanda C; Layfield, Stephen; Fletcher, Robin S; Tedder, Matthew L; Louie, Raymond J; Lee, Jennifer A; Kerkhof, Jennifer; Rzasa, Jessica; Sadikovic, Bekim; Al Mamun, Abdullah; Sheehan, Jonathan H; Moth, Christopher W; Meiler, Jens; Vawter-Lee, Marissa; Mendoza-Sengco, Paola Maria; Holzen, Jennifer B; Pruthi, Sumit; Phillips, John A 3rd; Tinker, Rory J
