利索-全球专利检索

  1. 登录
  2. 注册
发明公开
CN110157787A Schinzel-Giedion综合症简便识别分型方法及流程 审中-实审 转让

Schinzel-Giedion综合症简便识别分型方法及流程
摘要：
Schinzel-Giedion综合症简便识别分型方法及流程。技术领域：医学遗传学；解决的技术问题：Schinzel-Giedion综合症简便，通用具体识别分型方法及流程，和评估预后的方法。技术方案的要点：根据临床特征和/或SETBP1基因突变，Schinzel-Giedion综合症细分为三种类型。通过分型后进行具体预后评估方法，利于指导治疗改善症状。主要用途：针对Schinzel-Giedion综合症，有了简便，系统，通用识别分型方法及流程，和评估预后的方法。该方法相对简便，通用，全面，经济。且利于对本病机制的深入研究。
摘要（英）：

The invention provides a simple identification and typing method and process for Schinzel-Giedion syndrome, and belongs to the technical field of medical genetics. The to-be-achieved technical effectis to provide a simple, convenient, general and specific identification and typing method and process and a prognosis assessment method. The simple identification and typing method and process for theSchinzel-Giedion syndrome are characterized in that Schinzel-Giedion syndrome is subdivided into three types according to clinical features and/or SETBP1 gene mutations, and the guidance in treatingand improvement of symptoms are facilitated by performing specific prognosis assessment after typing. The main purpose is to provide the simple, convenient, systematic and general identification and typing method and process and the prognosis assessment method for the Schinzel-Giedion syndrome. The method is relatively simple, convenient, general, comprehensive and economical and is conductive tothe intensive study on the mechanism of the Schinzel-Giedion syndrome.

0/0