Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases
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DOI: 10.1038/ejhg.2017.49
Abstract: 16q24 deletion involving the ANKRD11 gene, ranging from 137 kb to 2 Mb, have been associated with a microdeletion syndrome characterized by variable cognitive impairment, autism spectrum disorder, facial dysmorphisms with dental anomalies, brain abnormalities essentially affecting… read more here.
Keywords: ankrd11 flanking; microdeletion; flanking genes; haploinsufficiency ankrd11 ... See more keywords