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A New Diagnosis of Williams-Beuren Syndrome in a 49-year-old Man with Severe Bullous Emphysema
Williams-Beuren Syndrome (WBS) is a chromosomal microdeletion syndrome typically presenting with intellectual disability, a unique personality, a characteristic facial appearance, and cardiovascular disease. Several clinical features of WBS are thought to be due to haploinsufficiency of elastin (ELN...
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| Publicado no: | Am J Med Genet A |
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| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2017
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5509496/ https://ncbi.nlm.nih.gov/pubmed/28574231 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.38289 |
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