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See Latest ArticlesPTPN11 Gene Mutation and Severe Neonatal Hypertrophic Cardiomyopathy: What Is the Link
Pediatric Cardiology, 07/13/09
Faienza MF et al. - These two allelic conditions have several overlapping clinical features. This study describes the association between the Gln510Glu mutation of the PTPN11 gene and lethal progressive hypertrophic cardiomyopathy in a newborn with the NS phenotype. The findings confirm the intriguing relationship between site-specific mutations of the PTPN11 gene and rapidly progressive HCM.
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