Article

ATR16 Syndrome: Mechanisms Linking Monosomy to Phenotype

2019-10-07

Abstract excerpt

<h4>Background</h4> Sporadic 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. <h4>Methods</h4> Here, as an example of this common phenomenon, we analysed 34 patients with simple...

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Literature Corpus work: d190682a-d3fd-515a-9b81-49c76cfee325
DOI: 10.1101/768895

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