| Autor: |
Ioannis G. Koutlas, Ana-Lia Anbinder, Rana Alshagroud, Ana Sueli Rodrigues Cavalcante, Mohammed Al Kindi, Molly M. Crenshaw, Julie C. Sapp, Hannah Kondolf, Marjorie J. Lindhurst, Jeffrey N. Dudley, Jennifer J. Johnston, Elyse Ryan, Keith Rafferty, Arupa Ganguly, Leslie G. Biesecker |
| Jazyk: |
angličtina |
| Rok vydání: |
2020 |
| Předmět: |
|
| Zdroj: |
HGG Advances, Vol 1, Iss 1, Pp 100009- (2020) |
| Druh dokumentu: |
article |
| ISSN: |
2666-2477 |
| DOI: |
10.1016/j.xhgg.2020.100009 |
| Popis: |
Summary: 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 article, we describe three individuals with this clinical entity and mosaic PIK3CA variants c.3140A>G (p. His1047Arg), c.328_330delGAA (p. Glu110del), and c.1353_1364del (p.Glu453_Leu456del). We conclude that the identification of these mosaic variants in individuals with orofacial asymmetry presenting histopathologically perineurial hyperplasia and/or intraneural pseudo-onion bulb perineurial cell proliferations supports the inclusion of this clinical entity in the PIK3CA-related overgrowth spectrum. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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