Rapidly Progressive Hypertrophic Cardiomyopathy in an Infant with Noonan syndrome with multiple Lentigines. Palliative Treatment with a Rapamycin Analog

Noonan syndrome with multiple lentigines (NSML) frequently manifests with hypertrophic cardiomyopathy (HCM). Recently, it was demonstrated that mTOR inhibition reverses HCM in NSML mice. We report for the first time on the effects of treatment with a rapamycin analog in an infant with LS and a malig...

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Vydáno v:Am J Med Genet A
Hlavní autoři: Hahn, Andreas, Lauriol, Jessica, Thul, Josef, Behnke-Hall, Kachina, Logeswaran, Tushiha, Schänzer, Anne, Böğürcü, Nuray, Garvalov, Boyan K., Zenker, Martin, Gelb, Bruce D., von Gerlach, Susanne, Kandolf, Reinhard, Kontaridis, Maria I., Schranz, Dietmar
Médium: Artigo
Jazyk:Inglês
Vydáno: 2015
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4598061/
https://ncbi.nlm.nih.gov/pubmed/25708222
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.36982
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