Article

Microdeletions excluding <i>YWHAE</i> and <i>PAFAH1B1</i> cause a unique leukoencephalopathy and hypermobility syndrome: Further delineation of the 17p13.3 microdeletion spectrum

2018-03-21

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Purpose</h4> Brain malformations are caused by 17p13.3 deletions: lissencephaly with deletions of the larger Miller-Dieker syndrome region or smaller deletions of only PAFAH1B1 , as well as various abnormalities, including white matter changes, in the distinct syndrome due to deletions including YWHAE and CRK but sparing PAFAH1B1. We sought to understand the significance of 17p13.3 dele...

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Literature Corpus work: 1865e42a-c866-5145-b959-0d14b4f180e6
DOI: 10.1101/286146

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Microdeletions excluding <i>YWHAE</i> and <i>PAFAH1B1</i> cause a unique leukoencephalopathy and hypermobility syndrome: Further delineation of the 17p13.3 microdeletion spectrumDOI 10.1101/286146Read

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