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SMAD4 mutations causing Myhre syndrome result in disorganization of extracellular matrix improved by losartan
Myhre syndrome (MS, MIM 139210) is a connective tissue disorder that presents with short stature, short hands and feet, facial dysmorphic features, muscle hypertrophy, thickened skin, and deafness. Recurrent missense mutations in SMAD4 encoding for a transducer mediating transforming growth factor β...
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| Main Authors: | , , , , , , , , |
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| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
Nature Publishing Group
2014
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3984901/ https://ncbi.nlm.nih.gov/pubmed/24398790 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2013.283 |
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