Llwytho...
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...
Wedi'i Gadw mewn:
| Cyhoeddwyd yn: | Am J Med Genet A |
|---|---|
| Prif Awduron: | , , , , , , , , , , , , , |
| Fformat: | Artigo |
| Iaith: | Inglês |
| Cyhoeddwyd: |
2015
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| Pynciau: | |
| 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 |
| Tagiau: |
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