Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders
6p22.3-p24.3染色体区域的缺失,包括ATXN1基因的缺失,与发育迟缓和自闭症谱系障碍有关。
期刊:Molecular Cytogenetics
影响因子:1.4
doi:10.1186/1755-8166-5-17
Celestino-Soper, Patrícia Bs; Skinner, Cindy; Schroer, Richard; Eng, Patricia; Shenai, Jayant; Nowaczyk, Malgorzata Mj; Terespolsky, Deborah; Cushing, Donna; Patel, Gayle S; Immken, Ladonna; Willis, Alecia; Wiszniewska, Joanna; Matalon, Reuben; Rosenfeld, Jill A; Stevenson, Roger E; Kang, Sung-Hae L; Cheung, Sau Wai; Beaudet, Arthur L; Stankiewicz, Pawel