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

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dc.contributor.authorKoutlas, Ioannis G.
dc.contributor.authorAnbinder, Ana-Lia [UNESP]
dc.contributor.authorAlshagroud, Rana
dc.contributor.authorRodrigues Cavalcante, Ana Sueli [UNESP]
dc.contributor.authorAl Kindi, Mohammed
dc.contributor.authorCrenshaw, Molly M.
dc.contributor.authorSapp, Julie C.
dc.contributor.authorKondolf, Hannah
dc.contributor.authorLindhurst, Marjorie J.
dc.contributor.authorDudley, Jeffrey N.
dc.contributor.authorJohnston, Jennifer J.
dc.contributor.authorRyan, Elyse
dc.contributor.authorRafferty, Keith
dc.contributor.authorGanguly, Arupa
dc.contributor.authorBiesecker, Leslie G.
dc.contributor.institutionUniversity of Minnesota
dc.contributor.institutionUniversidade Estadual Paulista (UNESP)
dc.contributor.institutionKing Saud University
dc.contributor.institutionNational Human Genome Research Institute
dc.contributor.institutionUniversity of Pennsylvania Perelman School of Medicine
dc.date.accessioned2022-04-28T19:41:32Z
dc.date.available2022-04-28T19:41:32Z
dc.date.issued2020-10-22
dc.description.abstractIndividuals 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.en
dc.description.affiliationDivision of Oral and Maxillofacial Pathology University of Minnesota
dc.description.affiliationSão Paulo State University (Unesp) Institute of Science and Technology, São José dos Campos
dc.description.affiliationKing Saud University
dc.description.affiliationMedical Genomics and Metabolic Genetics Branch National Human Genome Research Institute
dc.description.affiliationGenetic Diagnostic Laboratory University of Pennsylvania Perelman School of Medicine
dc.description.affiliationUnespSão Paulo State University (Unesp) Institute of Science and Technology, São José dos Campos
dc.identifierhttp://dx.doi.org/10.1016/j.xhgg.2020.100009
dc.identifier.citationHuman Genetics and Genomics Advances, v. 1, n. 1, 2020.
dc.identifier.doi10.1016/j.xhgg.2020.100009
dc.identifier.issn2666-2477
dc.identifier.scopus2-s2.0-85110077911
dc.identifier.urihttp://hdl.handle.net/11449/221952
dc.language.isoeng
dc.relation.ispartofHuman Genetics and Genomics Advances
dc.sourceScopus
dc.subjectface
dc.subjectoral mucosa
dc.subjectovergrowth
dc.subjectperineurium
dc.subjectperipheral nerve
dc.subjectPIK3CA
dc.subjectpseudo-onion bulbs
dc.titleOrofacial overgrowth with peripheral nerve enlargement and perineuriomatous pseudo-onion bulb proliferations is part of the PIK3CA-related overgrowth spectrumen
dc.typeArtigopt
dspace.entity.typePublication
unesp.author.orcid0000-0003-2939-5862[1]
unesp.campusUniversidade Estadual Paulista (UNESP), Instituto de Ciência e Tecnologia, São José dos Campospt

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São José dos Campos - ICT - Instituto de Ciência e Tecnologia