ATR-16 syndrome: mechanisms linking monosomy to phenotype
Background Deletions removing 100s–1000s kb of DNA, and variable numbers of poorly characterised genes, are often found in patients with a wide range of developmental abnormalities. In such cases, understanding the contribution of the deletion to an individual’s clinical phenotype is challenging. M...
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| Fformat: | Journal article |
| Iaith: | English |
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BMJ Publishing Group
2020
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