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Detection of deletions at 7q11.23 in Williams-Beuren syndrome by polymorphic markers
INTRODUCTION: Williams-Beuren syndrome (WBS; OMIM 194050) is caused by a hemizygous contiguous gene microdeletion at 7q11.23. Supravalvular aortic stenosis, mental retardation, overfriendliness, and ocular and renal abnormalities comprise typical symptoms in WBS. Although fluorescence in situ hybrid...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo
2011
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3129970/ https://www.ncbi.nlm.nih.gov/pubmed/21808859 http://dx.doi.org/10.1590/S1807-59322011000600007 |