Articles with "1q41q42 microdeletion" as a keyword



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Phenotypic features of 1q41q42 microdeletion including WDR26 and FBXO28 are clinically recognizable: The first case from Japan

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Published in 2019 at "Brain and Development"

DOI: 10.1016/j.braindev.2018.12.006

Abstract: 1q41q42 microdeletion syndrome has been established in 2007. Since then, more than 17 patients have been reported so far. The reported deletions showed random breakpoints and deletion regions are aligned as roof tiles. Patients with… read more here.

Keywords: wdr26 fbxo28; 1q41q42 microdeletion; microdeletion syndrome; microdeletion ... See more keywords