Out-of-hospital cardiac arrest and survival in a patient with Noonan syndrome and multiple lentigines: a case report
نویسندگان
چکیده
منابع مشابه
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متن کاملElevated Ca2+ transients and increased myofibrillar power generation cause cardiac hypercontractility in a model of Noonan syndrome with multiple lentigines.
Noonan syndrome with multiple lentigines (NSML) is primarily caused by mutations in the nonreceptor protein tyrosine phosphatase SHP2 and associated with congenital heart disease in the form of pulmonary valve stenosis and hypertrophic cardiomyopathy (HCM). Our goal was to elucidate the cellular mechanisms underlying the development of HCM caused by the Q510E mutation in SHP2. NSML patients car...
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ژورنال
عنوان ژورنال: Journal of Medical Case Reports
سال: 2019
ISSN: 1752-1947
DOI: 10.1186/s13256-019-2096-6