全部 标题 作者
关键词 摘要

OALib Journal期刊
ISSN: 2333-9721
费用:99美元

查看量下载量

相关文章

更多...

LEOPARD syndrome in an infant with severe hypertrophic cardiomyopathy and PTPN11 mutation

Keywords: Hypertrophic cardiomyopathy , LEOPARD syndrome , lentiginosis , PTPN11 mutation

Full-Text   Cite this paper   Add to My Lib

Abstract:

In LEOPARD syndrome, mutations affecting exon 13 of the PTPN11 gene have been correlated with a rapidly progressive severe biventricular obstructive hypertrophic cardiomyopathy (HCM). This is a report of early onset severe HCM in an infant with LEOPARD syndrome and an unusual mutation in exon 13, showing genotype-phenotype correlation.

Full-Text

Contact Us

service@oalib.com

QQ:3279437679

WhatsApp +8615387084133