Hypertrophic Cardiomyopathy in Noonan Syndrome Treated by MEK-Inhibition
- PMID: 31047013
- PMCID: PMC6916648
- DOI: 10.1016/j.jacc.2019.01.066
Hypertrophic Cardiomyopathy in Noonan Syndrome Treated by MEK-Inhibition
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References
-
- Wilkinson JD, Lowe AM, Salbert BA et al. Outcomes in children with Noonan syndrome and hypertrophic cardiomyopathy: a study from the Pediatric Cardiomyopathy Registry. Am Heart J 2012;164:442–8. - PubMed
-
- Khoury PR, Mitsnefes M, Daniels SR, Kimball TR. Age-specific reference intervals for indexed left ventricular mass in children. J Am Soc Echocardiography. 2009;22:709–14. - PubMed
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