在一个疑似患有锁骨颅骨发育不全的伊朗家族中鉴定一种新的RUNX2基因突变并进行CCD的早期诊断。
Identification of a novel RUNX2 gene mutation and early diagnosis of CCD in a cleidocranial dysplasia suspected Iranian family.
作者信息
Daneshjoo Omid, Ebrahimi Pirooz, Salehi Leila B, Pizzuti Antonio, Garshasbi Masoud
机构信息
Medical Genetics Group Department of Experimental Medicine "Sapienza'' University of Rome Rome Italy.
Medical Genetics Department DeNA Laboratory Tehran Iran.
出版信息
Clin Case Rep. 2020 Apr 3;8(12):2333-2340. doi: 10.1002/ccr3.2825. eCollection 2020 Dec.
Abstract
This research resulted in the identification and submission of a novel RUNX2 gene mutation in the affected members of the studied pedigree. Mutation screening is an effective method for the early diagnosis of CCD in the affected individuals.
摘要
本研究在研究家系的患病成员中鉴定并提交了一种新的RUNX2基因突变。突变筛查是对受影响个体进行CCD早期诊断的有效方法。
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