Further characterization of the 9q31 microdeletion phenotype; delineation of a common region of overlap containing ZNF462

Abstract Background Loss of function variants and whole gene deletions of ZNF462 has been associated with a novel phenotype of developmental delay/intellectual disability and distinctive facial features. Over two dozen cases have been reported to date and the condition is now known as Weiss‐Kruszka...

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Bibliographic Details
Published in:Molecular Genetics & Genomic Medicine
Main Authors: Lauren Brady, Mark Ballantyne, John Duck, Thomas Fisker, Ryan Kleefman, Chumei Li, Landry Nfonsam, Lee‐Anne Schultz, Mark Tarnopolsky, Elizabeth McCready
Format: Article
Language:English
Published: Wiley 2023-03-01
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Online Access:https://doi.org/10.1002/mgg3.2116