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A novel PTPN11 missense mutation in a patient with LEOPARD syndrome

✍ Scribed by R. Osawa; M. Akiyama; Y. Yamanaka; H. Ujiie; I. Nemoto-Hasebe; A. Takeda; T. Yanagi; H. Shimizu

Book ID: 108670818
Publisher: John Wiley and Sons
Year: 2009
Tongue: English
Weight: 248 KB
Volume: 161
Category: Article
ISSN: 0007-0963
DOI: 10.1111/j.1365-2133.2009.09385.x

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## Abstract ## BACKGROUND Nonsyndromic hypertrophic cardiomyopathy (HCM) is a primary cardiac disease transmitted as an autosomal dominant trait. Multiple chromosomal loci have been found to be involved in the etiology of this defect. LEOPARD syndrome is a genetic condition characteristically asso