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Importance of the Clinical Recognition of Loeys-Dietz Syndrome in the Neonatal Period
We describe 5 patients who presented with musculoskeletal abnormalities in the neonatal period. All patients were initially suspected to have Larsen syndrome or Beals syndrome but were subsequently diagnosed with a TGFBR2 mutation diagnostic of Loeys-Dietz syndrome. Patients had progressive aortic e...
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| Main Authors: | , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2007
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3131201/ https://ncbi.nlm.nih.gov/pubmed/17470566 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1542/peds.2006-2886 |
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