Pediatric patients with RASopathy-associated hypertrophic cardiomyopathy: the multifaceted consequences of PTPN11 mutations

DOI: 10.1186/s13023-019-1151-0

Keywords: PI3K-AKT-mTOR, MAPK, Hypertrophic cardiomyopathy, RASopathy

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Abstract:

Literature reports of patients carrying mutation at codon 510 of PTPN11 gen

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