30
Sep
Deletion 2p16.1p15, USP34 and XPO1 genes
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Deletion 2p16.1p15 is a relatively rare abnormality reported so far in ~50 patients. Most affected persons show microcephaly, growth delay, spectrum of dysmorphic features (hypertelorism, down slanting palpebral fissures, broad nasal root, short philtrum, high palate) and intellectual disability. Many patients also reveal hearing impairment, hypotonia and autism spectrum disorder.... Read More