外周肺动脉狭窄：一个罕见病例及遗传关联探讨
Peripheral pulmonary artery stenosis: an unusual case and discussion of genetic associations.
作者信息
Ngo My-Linh D, Aggarwal Avichal, Knudson Jarrod D
机构信息
Department of Pediatrics, Children's Heart Center, University of Mississippi Medical Center, Jackson, Miss, USA.
出版信息
Congenit Heart Dis. 2014 Sep-Oct;9(5):448-52. doi: 10.1111/chd.12198. Epub 2014 Jun 25.
PMID:24965779
Abstract
Peripheral pulmonary artery stenosis is a common congenital heart lesion associated with several genetic syndromes. We have reviewed the genetics of the lesion and present an unusual case of peripheral pulmonary stenosis involving a newly reported genetic deletion on chromosome 16. Further studies will be needed to confirm association of this genotype and phenotype.
摘要
外周肺动脉狭窄是一种与多种遗传综合征相关的常见先天性心脏病变。我们回顾了该病变的遗传学，并报告了一例不寻常的外周肺动脉狭窄病例，涉及16号染色体上新报道的基因缺失。需要进一步研究来证实这种基因型与表型之间的关联。
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