CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype

Autor: Rodriguez-Laguna, Lara, Ibañez, Kristina, Gordo, Gema, Garcia-Minaur, Sixto, Santos-Simarro, Fernando, Agra, Noelia, Vallespín, Elena, Fernández-Montaño, Victoria E., Martín-Arenas, Rubén, del Pozo, Ángela, González-Pecellín, Héctor, Mena, Rocío, Rueda-Arenas, Inmaculada, Gomez, María V., Villaverde, Cristina, Bustamante, Ana, Ayuso, Carmen, Ruiz-Perez, Víctor L., Nevado, Julián, Lapunzina, Pablo, Lopez-Gutierrez, Juan C., Martinez-Glez, Victor
Zdroj: In Genetics in Medicine August 2018 20(8):882-889
Databáze: ScienceDirect
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