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Challenges in Clinical Diagnosis of Williams-Beuren Syndrome in Sub-Saharan Africans: Case Reports from Cameroon
Williams-Beuren syndrome (WBS) is a rare neurodevelopmental condition caused by a recurrent chromosomal microdeletion involving about 28 contiguous genes at 7q11.23. Most patients display a specific congenital heart defect, characteristic facial features, a particular behavior, and intellectual disa...
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| Publicado no: | Mol Syndromol |
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| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
S. Karger AG
2014
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4281575/ https://ncbi.nlm.nih.gov/pubmed/25565928 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000369421 |
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