豫北地区单中心儿童罕见病疾病谱与基因变异分析
崔清洋,赵孩孩,尚云,郭灵灵,李洁,员丽,逯军
Analysis of the disease spectrum and genetic variations of rare diseases in children in a single center in northern Henan region
Qingyang CUI,Haihai ZHAO,Yun SHANG,Lingling GUO,Jie LI,Li YUAN,Jun LU
实用医学杂志 . 2026, (14): 2621 -2631 .  DOI: 10.3969/j.issn.1006-5725.2026.14.015