一名患有7p15.2 - p15.1新发重复的新生儿的额面鼻发育异常
Frontofacionasal Dysplasia in a Newborn with a De Novo Duplication of 7p15.2-p15.1.
作者信息
Mansour Tamer, Wei Sainan, Netzloff Michael, Mohamed Tarek, Schutte Brian, Omar Said A
机构信息
Department of Pediatrics and Human Development, College of Human Medicine, East Lansing, Michigan ; Department of Microbiology and Molecular Genetics, Michigan State University, East Lansing, Michigan.
Department of Pediatrics and Human Development, College of Human Medicine, East Lansing, Michigan.
出版信息
AJP Rep. 2015 Oct;5(2):e111-e1115. doi: 10.1055/s-0035-1549299. Epub 2015 May 15.
We report a new case of frontofacionasal dysplasia or dysostosis (FFND) with a 1.5 Mb duplication in the region of 7p15.2-p15.1, and provide a review of the literature to understand the underlying pathogenesis better.
我们报告了一例新的额面鼻发育不全或骨发育异常（FFND）病例，其7号染色体短臂15.2 - 15.1区域存在1.5 Mb的重复，并对文献进行了综述以更好地理解潜在的发病机制。
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