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

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Autor(es): dc.contributorUniversity of Minnesota-
Autor(es): dc.contributorUniversidade Estadual Paulista (UNESP)-
Autor(es): dc.contributorKing Saud University-
Autor(es): dc.contributorNational Human Genome Research Institute-
Autor(es): dc.contributorUniversity of Pennsylvania Perelman School of Medicine-
Autor(es): dc.creatorKoutlas, Ioannis G.-
Autor(es): dc.creatorAnbinder, Ana-Lia [UNESP]-
Autor(es): dc.creatorAlshagroud, Rana-
Autor(es): dc.creatorRodrigues Cavalcante, Ana Sueli [UNESP]-
Autor(es): dc.creatorAl Kindi, Mohammed-
Autor(es): dc.creatorCrenshaw, Molly M.-
Autor(es): dc.creatorSapp, Julie C.-
Autor(es): dc.creatorKondolf, Hannah-
Autor(es): dc.creatorLindhurst, Marjorie J.-
Autor(es): dc.creatorDudley, Jeffrey N.-
Autor(es): dc.creatorJohnston, Jennifer J.-
Autor(es): dc.creatorRyan, Elyse-
Autor(es): dc.creatorRafferty, Keith-
Autor(es): dc.creatorGanguly, Arupa-
Autor(es): dc.creatorBiesecker, Leslie G.-
Data de aceite: dc.date.accessioned2022-08-04T22:10:22Z-
Data de disponibilização: dc.date.available2022-08-04T22:10:22Z-
Data de envio: dc.date.issued2022-04-28-
Data de envio: dc.date.issued2022-04-28-
Data de envio: dc.date.issued2020-10-21-
Fonte completa do material: dc.identifierhttp://dx.doi.org/10.1016/j.xhgg.2020.100009-
Fonte completa do material: dc.identifierhttp://hdl.handle.net/11449/221952-
Fonte: dc.identifier.urihttp://educapes.capes.gov.br/handle/11449/221952-
Descrição: dc.descriptionIndividuals 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.-
Descrição: dc.descriptionDivision of Oral and Maxillofacial Pathology University of Minnesota-
Descrição: dc.descriptionSão Paulo State University (Unesp) Institute of Science and Technology, São José dos Campos-
Descrição: dc.descriptionKing Saud University-
Descrição: dc.descriptionMedical Genomics and Metabolic Genetics Branch National Human Genome Research Institute-
Descrição: dc.descriptionGenetic Diagnostic Laboratory University of Pennsylvania Perelman School of Medicine-
Descrição: dc.descriptionSão Paulo State University (Unesp) Institute of Science and Technology, São José dos Campos-
Idioma: dc.languageen-
Relação: dc.relationHuman Genetics and Genomics Advances-
???dc.source???: dc.sourceScopus-
Palavras-chave: dc.subjectface-
Palavras-chave: dc.subjectoral mucosa-
Palavras-chave: dc.subjectovergrowth-
Palavras-chave: dc.subjectperineurium-
Palavras-chave: dc.subjectperipheral nerve-
Palavras-chave: dc.subjectPIK3CA-
Palavras-chave: dc.subjectpseudo-onion bulbs-
Título: dc.titleOrofacial overgrowth with peripheral nerve enlargement and perineuriomatous pseudo-onion bulb proliferations is part of the PIK3CA-related overgrowth spectrum-
Tipo de arquivo: dc.typelivro digital-
Aparece nas coleções:Repositório Institucional - Unesp

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