Orofacial overgrowth with peripheral nerve enlargement and perineuriomatous pseudo-onion bulb proliferations is part of the PIK3CA-related overgrowth spectrum (PROS)

Individuals with orofacial asymmetry due to mucosal overgrowths, ipsilateral bone and dental aberrations with perineurial hyperplasia and/or perineuriomatous pseudo-onion bulb proliferations, comprise a recognizable clinical entity. In this report, we describe three individuals with this clinical entity and mosaic PIK3CA variants, c.3140A>G; p.(His1047Arg), c.328_330delGAA; p.(Glu110del), and…

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Source: Human Genetics and Genomics Advances
Categories: Genetics, Latest Headlines
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RT @HGGAdvances: New! Koutlas et al. report mosaic PIK3CA variants in individuals with orofacial asymmetry https://t.co/gBYFbIki2M

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