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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Am J Med Genet A
Prif Awduron: 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
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 2015
Pynciau:
Article
Mynediad Ar-lein: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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