Novel deletion of 6p21.31p21.1 associated with laryngeal cleft, developmental delay, dysmorphic features and vascular anomaly.
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DOI: 10.1016/j.ejmg.2018.08.012
Abstract: Interstitial deletions involving chromosome region 6p21.31p21.2 have not been previously reported in the literature. Here, we present a 2 year old girl with global developmental delay, severe speech delay, dysmorphic features, laryngeal cleft, anterior descending… read more here.
Keywords: dysmorphic features; developmental delay; delay dysmorphic; deletion ... See more keywords