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

Abstract excerpt

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 syndrome (OMIM# 618619). There are several older reports in the literature and DECIPER detailing individuals with...

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