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CLAPO syndrome: Identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype
Lara Rodriguez-Laguna, Kristina Ibañez, Gema Gordo, Sixto Garcia-Minaur, Fernando Santos-Simarro, Noelia Agra, Elena Vallespín, Victoria E Fernández-Montaño, Rubén Martín-Arenas, Ángela del Pozo, Héctor Gonzalez-Pecellín, Rocío Mena, Inmaculada Rueda-Arenas, María V. Gomez, Cristina Villaverde, Ana Bustamante, Carmen Ayuso, Víctor L. Ruiz-Perez, Julián Nevado, Pablo Lapunzina, Juan C. Lopez-Gutierrez, View ORCID ProfileVictor Martinez-Glez
doi: https://doi.org/10.1101/154591
Lara Rodriguez-Laguna
1Vascular Malformations Section, Institute of Medical and Molecular Genetics, INGEMM-IdiPAZ, Hospital Universitario La Paz, Madrid, 28046, Spain.
6CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, 28029, Spain.
Kristina Ibañez
2Bioinformatics Section, Institute of Medical and Molecular Genetics, INGEMM-IdiPAZ, Hospital Universitario La Paz, Madrid, 28046, Spain.
Gema Gordo
1Vascular Malformations Section, Institute of Medical and Molecular Genetics, INGEMM-IdiPAZ, Hospital Universitario La Paz, Madrid, 28046, Spain.
6CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, 28029, Spain.
Sixto Garcia-Minaur
3Clinical Genetics Section, Institute of Medical and Molecular Genetics, INGEMM-IdiPAZ, Hospital Universitario La Paz, Madrid, 28046, Spain.
6CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, 28029, Spain.
Fernando Santos-Simarro
3Clinical Genetics Section, Institute of Medical and Molecular Genetics, INGEMM-IdiPAZ, Hospital Universitario La Paz, Madrid, 28046, Spain.
6CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, 28029, Spain.
Noelia Agra
1Vascular Malformations Section, Institute of Medical and Molecular Genetics, INGEMM-IdiPAZ, Hospital Universitario La Paz, Madrid, 28046, Spain.
Elena Vallespín
4Structural and Functional Genomics Section, Institute of Medical and Molecular Genetics, INGEMM-IdiPAZ, Hospital Universitario La Paz, Madrid, 28046, Spain.
6CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, 28029, Spain.
Victoria E Fernández-Montaño
4Structural and Functional Genomics Section, Institute of Medical and Molecular Genetics, INGEMM-IdiPAZ, Hospital Universitario La Paz, Madrid, 28046, Spain.
Rubén Martín-Arenas
4Structural and Functional Genomics Section, Institute of Medical and Molecular Genetics, INGEMM-IdiPAZ, Hospital Universitario La Paz, Madrid, 28046, Spain.
Ángela del Pozo
2Bioinformatics Section, Institute of Medical and Molecular Genetics, INGEMM-IdiPAZ, Hospital Universitario La Paz, Madrid, 28046, Spain.
Héctor Gonzalez-Pecellín
4Structural and Functional Genomics Section, Institute of Medical and Molecular Genetics, INGEMM-IdiPAZ, Hospital Universitario La Paz, Madrid, 28046, Spain.
6CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, 28029, Spain.
Rocío Mena
4Structural and Functional Genomics Section, Institute of Medical and Molecular Genetics, INGEMM-IdiPAZ, Hospital Universitario La Paz, Madrid, 28046, Spain.
6CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, 28029, Spain.
Inmaculada Rueda-Arenas
4Structural and Functional Genomics Section, Institute of Medical and Molecular Genetics, INGEMM-IdiPAZ, Hospital Universitario La Paz, Madrid, 28046, Spain.
6CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, 28029, Spain.
María V. Gomez
4Structural and Functional Genomics Section, Institute of Medical and Molecular Genetics, INGEMM-IdiPAZ, Hospital Universitario La Paz, Madrid, 28046, Spain.
6CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, 28029, Spain.
Cristina Villaverde
6CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, 28029, Spain.
8Department of Genetics, IIS-Fundación Jiménez Díaz UAM, Madrid, 28040, Spain.
Ana Bustamante
6CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, 28029, Spain.
8Department of Genetics, IIS-Fundación Jiménez Díaz UAM, Madrid, 28040, Spain.
Carmen Ayuso
6CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, 28029, Spain.
8Department of Genetics, IIS-Fundación Jiménez Díaz UAM, Madrid, 28040, Spain.
Víctor L. Ruiz-Perez
6CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, 28029, Spain.
7Instituto de Investigaciones Biomédicas “Alberto Sols”, CSIC-UAM, Madrid, 28029, Spain.
Julián Nevado
4Structural and Functional Genomics Section, Institute of Medical and Molecular Genetics, INGEMM-IdiPAZ, Hospital Universitario La Paz, Madrid, 28046, Spain.
6CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, 28029, Spain.
Pablo Lapunzina
3Clinical Genetics Section, Institute of Medical and Molecular Genetics, INGEMM-IdiPAZ, Hospital Universitario La Paz, Madrid, 28046, Spain.
6CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, 28029, Spain.
Juan C. Lopez-Gutierrez
5Vascular Anomalies Center, Plastic Surgery, Hospital Universitario La Paz, Madrid, 28046, Spain.
Victor Martinez-Glez
1Vascular Malformations Section, Institute of Medical and Molecular Genetics, INGEMM-IdiPAZ, Hospital Universitario La Paz, Madrid, 28046, Spain.
6CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, 28029, Spain.
Article usage
Posted June 26, 2017.
CLAPO syndrome: Identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype
Lara Rodriguez-Laguna, Kristina Ibañez, Gema Gordo, Sixto Garcia-Minaur, Fernando Santos-Simarro, Noelia Agra, Elena Vallespín, Victoria E Fernández-Montaño, Rubén Martín-Arenas, Ángela del Pozo, Héctor Gonzalez-Pecellín, Rocío Mena, Inmaculada Rueda-Arenas, María V. Gomez, Cristina Villaverde, Ana Bustamante, Carmen Ayuso, Víctor L. Ruiz-Perez, Julián Nevado, Pablo Lapunzina, Juan C. Lopez-Gutierrez, Victor Martinez-Glez
bioRxiv 154591; doi: https://doi.org/10.1101/154591
CLAPO syndrome: Identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype
Lara Rodriguez-Laguna, Kristina Ibañez, Gema Gordo, Sixto Garcia-Minaur, Fernando Santos-Simarro, Noelia Agra, Elena Vallespín, Victoria E Fernández-Montaño, Rubén Martín-Arenas, Ángela del Pozo, Héctor Gonzalez-Pecellín, Rocío Mena, Inmaculada Rueda-Arenas, María V. Gomez, Cristina Villaverde, Ana Bustamante, Carmen Ayuso, Víctor L. Ruiz-Perez, Julián Nevado, Pablo Lapunzina, Juan C. Lopez-Gutierrez, Victor Martinez-Glez
bioRxiv 154591; doi: https://doi.org/10.1101/154591
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