The Common Inversion of the Williams–Beuren Syndrome Region at 7q11.23 Does Not Cause Clinical Symptoms

Williams–Beuren syndrome (WBS) is caused by a ~1.5 million base pair deletion at 7q11.23. A common inversion of the region, WBSinv-1, exists as a polymorphism but was also found in individuals with WBS-like features but no deletion, suggesting it could cause clinical symptoms. We performed a full cl...

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Hlavní autoři: Tam, Elaine, Young, Edwin J., Morris, Colleen A., Marshall, Christian R., Loo, Wayne, Scherer, Stephen W., Mervis, Carolyn B., Osborne, Lucy R.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2008
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2886033/
https://ncbi.nlm.nih.gov/pubmed/18553513
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.32360
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