A Novel MYCN Variant Associated with Intellectual Disability Regulates Neuronal Development

• 来源期刊: 神经科学通报（英文版）
• 年，卷（期）: 2018,（5）
• 页码范围: 854-858
• 页数: 5页
• 语种: 英文

摘要

Dear Editor, The V-MYC avian myelocytomatosis viral-related oncogene,a neuroblastoma-derived gene (MYCN,MIM:164840) located on chromosome 2p24,was previously found to be associated with Feingold syndrome 1 (FGLDS1,MIM:164280) [1].FGLDS1 is an autosomal dominant disorder characterized by variable combinations of microcephaly,limb malformations,esophageal and duodenal atresias,and learning disabilities.Cardiac and renal malformations,vertebral anomalies,and deafness have also been described in a minority of patients [2].