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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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Bibliographic Details
Published in:Am J Med Genet A
Main Authors: 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
Format: Artigo
Language:Inglês
Published: 2015
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Online Access: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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