Phenome-wide profiling identifies genotype-phenotype associations in Phelan-McDermid syndrome using family-sourced data from an international registry
利用来自国际登记处的家族数据,通过全表型组分析,识别了Phelan-McDermid综合征的基因型-表型关联。
期刊:Molecular Autism
影响因子:5.5
doi:10.1186/s13229-024-00619-z
Yin, Rui; Wack, Maxime; Hassen-Khodja, Claire; McDuffie, Michael T; Bliss, Geraldine; Horn, Elizabeth J; Kothari, Cartik; McLarney, Brittany; Davis, Rebecca; Hanson, Kristen; O'Boyle, Megan; Betancur, Catalina; Avillach, Paul