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Observation of a parental inversion variant in a rare Williams–Beuren syndrome family with two affected children
The Williams–Beuren syndrome (WBS) region at 7q11.23 is subject to several genomic rearrangements, one of which, the WBSinv-1 variant, is an inversion polymorphism. The WBSinv-1 chromosome has been shown to occur frequently in parents of individuals with WBS, implying that it predisposes the region...
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| Main Authors: | , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2005
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2896963/ https://ncbi.nlm.nih.gov/pubmed/15933846 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-005-1325-9 |
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