PTPN11 Mosaicism Causes a Spectrum of Pigmentary and Vascular Neurocutaneous Disorders and Predisposes to Melanoma

Phakomatosis pigmentovascularis is a diagnosis that denotes the coexistence of pigmentary and vascular birthmarks of specific types, accompanied by variable multisystem involvement, including CNS disease, asymmetrical growth, and a predisposition to malignancy. Using a tight phenotypic group and hig...

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Detalles Bibliográficos
Autores principales: Polubothu, Satyamaanasa, Bender, Nicole, Muthiah, Siobhan, Zecchin, Davide, Demetriou, Charalambos, Martin, Sara Barberan, Malhotra, Sony, Travnickova, Jana, Zeng, Zhiqiang, Böhm, Markus, Barbarot, Sebastien, Cottrell, Catherine, Davies, Olivia, Baselga, Eulalia, Burrows, Nigel P., Carmignac, Virginie, Diaz, Joey Santiago, Fink, Christine, Haenssle, Holger A., Happle, Rudolf, Harland, Mark, Majerowski, Jacquelyn, Vabres, Pierre, Vincent, Marie, Newton-Bishop, Julia A., Bishop, D. Tim, Siegel, Dawn, Patton, E. Elizabeth, Topf, Maya, Rajan, Neil, Drolet, Beth, Kinsler, Veronica A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10602917/
https://www.ncbi.nlm.nih.gov/pubmed/36566878
http://dx.doi.org/10.1016/j.jid.2022.09.661

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