Coffin-Lowry syndrome: a systematic review of RPS6KA3 confirmed cases and implications for diagnosis and counseling
科芬-洛瑞综合征:RPS6KA3确诊病例的系统性综述及其对诊断和咨询的意义
期刊:Frontiers in Genetics
影响因子:2.8
doi:10.3389/fgene.2025.1715229
Maity, Sabyasachi; Montion, Miranda; Boothe, Danielle; Attarpour, Mona; Mageto, Ivy; Agarwal, Simran; Patel, Rujul; Lark, Chloe; Cardona Valentin, Nemesis; Quinones-Budel, Esther; Shireen, Hafsah; Gadad, Bharathi S; Anand, Nikhilesh; Goyal, Anmol; Mendoza, Jaime E; Nauhria, Shreya; Nauhria, Samal