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An atypical 7q11.23 deletion in a normal IQ Williams–Beuren syndrome patient
Williams–Beuren syndrome (WBS; OMIM no. 194050) is a multisystemic neurodevelopmental disorder caused by a hemizygous deletion of 1.55 Mb on chromosome 7q11.23 spanning 28 genes. Haploinsufficiency of the ELN gene was shown to be responsible for supravalvular aortic stenosis and generalized arteriop...
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| Glavni autori: | , , , , , , , , , |
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| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Nature Publishing Group
2010
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| Teme: | |
| Online pristup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2987159/ https://ncbi.nlm.nih.gov/pubmed/19568270 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2009.108 |
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