在异常新生儿筛查中发现的带有复合杂合 ATM 突变的共济失调 - 毛细血管扩张症。
关键词: DNA double strand breaks Gamma-H2AX Lymphocytes Lymphopenia Phosphorylated ATM Severe combined immunodeficiency TREC ataxia telangiectasia
Mesh : Humans Ataxia Telangiectasia Mutated Proteins / genetics Ataxia Telangiectasia / genetics diagnosis Infant, Newborn Mutation Heterozygote Neonatal Screening Female Male
来 源: DOI:10.1016/j.clim.2024.110294