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GNA11 brain somatic pathogenic variant in an individual with phacomatosis pigmentovascularis

OBJECTIVE: To describe the findings of histopathology and genotyping studies in affected brain tissue from an individual with phacomatosis pigmentovascularis (PPV). METHODS: A retrospective chart review of a 2-year 10-month-old male with a clinical diagnosis of PPV cesiomarmorata (or type V) was per...

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Detalles Bibliográficos
Autores principales:	Sliepka, Joseph M., McGriff, Sarah C., Rossetti, Linda Z., Bizargity, Peyman, Streff, Haley, Lee, Yi-Shan, Dai, Hongzheng, Polubothu, Satyamaanasa, Lee, Grace, Ren, Vicky, Hunter, Jill V., Curry, Daniel J., Scaglia, Fernando, Adesina, Adekunle M., Ali, Irfan, Kinsler, Veronica, Burrage, Lindsay C., Marafi, Dana
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer 2019
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6878837/ https://www.ncbi.nlm.nih.gov/pubmed/31872050 http://dx.doi.org/10.1212/NXG.0000000000000366

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