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先天性肛门直肠畸形(ARM)发病率占消化道畸形首位,分为孤立性ARM和合并其他畸形的非孤立性ARM。目前研究表明,ARM是多基因遗传疾病,遗传因素在疾病发生发展中起到重要作用。文章就非孤立性ARM相关的遗传因素及潜在的信号转导途径作一综述。
Congenital anorectal malformation (ARM) incidence of gastrointestinal malformations accounted for the first, divided into solitary ARM and other non-isolated deformity ARM. The current research shows that ARM is a polygenic disease, genetic factors play an important role in the development of the disease. This article reviews the non-orbital ARM related genetic factors and potential signal transduction pathways.