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Parental Mosaicism in PAX6 Causes Intra-Familial Variability: Implications for Genetic Counseling of Congenital Aniridia and Microphthalmia.
Tarilonte, María; Morín, Matías; Ramos, Patricia; Galdós, Marta; Blanco-Kelly, Fiona; Villaverde, Cristina; Rey-Zamora, Dolores; Rebolleda, Gema; Muñoz-Negrete, Francisco J; Tahsin-Swafiri, Saoud; Gener, Blanca; Moreno-Pelayo, Miguel-Angel; Ayuso, Carmen; Villamar, Manuela; Corton, Marta.
Afiliação
  • Tarilonte M; Department of Genetics and Genomics, Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz, University Hospital - Universidad Autónoma de Madrid, Madrid, Spain.
  • Morín M; Servicio de Genética, Instituto Ramón y Cajal de Investigación Sanitaria, Hospital Universitario Ramón y Cajal, Madrid, Spain.
  • Ramos P; Centre for Biomedical Network Research on Rare Diseases, Instituto de Salud Carlos III, Madrid, Spain.
  • Galdós M; Department of Genetics and Genomics, Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz, University Hospital - Universidad Autónoma de Madrid, Madrid, Spain.
  • Blanco-Kelly F; Department of Ophthalmology, Cruces University Hospital, Bilbao, Spain.
  • Villaverde C; Department of Genetics and Genomics, Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz, University Hospital - Universidad Autónoma de Madrid, Madrid, Spain.
  • Rey-Zamora D; Centre for Biomedical Network Research on Rare Diseases, Instituto de Salud Carlos III, Madrid, Spain.
  • Rebolleda G; Department of Genetics and Genomics, Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz, University Hospital - Universidad Autónoma de Madrid, Madrid, Spain.
  • Muñoz-Negrete FJ; Centre for Biomedical Network Research on Rare Diseases, Instituto de Salud Carlos III, Madrid, Spain.
  • Tahsin-Swafiri S; Servicio de Genética, Instituto Ramón y Cajal de Investigación Sanitaria, Hospital Universitario Ramón y Cajal, Madrid, Spain.
  • Gener B; Department of Glaucoma, Instituto Ramón y Cajal de Investigación Sanitaria, Hospital Universitario Ramón y Cajal, Madrid, Spain.
  • Moreno-Pelayo MA; Department of Glaucoma, Instituto Ramón y Cajal de Investigación Sanitaria, Hospital Universitario Ramón y Cajal, Madrid, Spain.
  • Ayuso C; Department of Genetics and Genomics, Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz, University Hospital - Universidad Autónoma de Madrid, Madrid, Spain.
  • Villamar M; Centre for Biomedical Network Research on Rare Diseases, Instituto de Salud Carlos III, Madrid, Spain.
  • Corton M; Centre for Biomedical Network Research on Rare Diseases, Instituto de Salud Carlos III, Madrid, Spain.
Front Genet ; 9: 479, 2018.
Article em En | MEDLINE | ID: mdl-30386378

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Etiology_studies / Prognostic_studies Idioma: En Revista: Front Genet Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Espanha País de publicação: Suíça

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Etiology_studies / Prognostic_studies Idioma: En Revista: Front Genet Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Espanha País de publicação: Suíça