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The role of GTF2IRD1 in the auditory pathology of Williams–Beuren Syndrome
Williams–Beuren Syndrome (WBS) is a rare genetic condition caused by a hemizygous deletion involving up to 28 genes within chromosome 7q11.23. Among the spectrum of physical and neurological defects in WBS, it is common to find a distinctive response to sound stimuli that includes extreme adverse re...
保存先:
| 出版年: | Eur J Hum Genet |
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| 主要な著者: | , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Nature Publishing Group
2015
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4795059/ https://ncbi.nlm.nih.gov/pubmed/25248400 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2014.188 |
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