Parental Mosaicism in PAX6 Causes Intra-Familial Variability: Implications for Genetic Counseling of Congenital Aniridia and Microphthalmia.
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| Title: | Parental Mosaicism in PAX6 Causes Intra-Familial Variability: Implications for Genetic Counseling of Congenital Aniridia and Microphthalmia. |
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| Authors: | 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.; Centre for Biomedical Network Research on Rare Diseases, Instituto de Salud Carlos III, Madrid, Spain., Ramos P; Department of Genetics and Genomics, Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz, University Hospital - Universidad Autónoma de Madrid, Madrid, Spain., Galdós M; Department of Ophthalmology, Cruces University Hospital, Bilbao, Spain., Blanco-Kelly F; Department of Genetics and Genomics, Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz, University Hospital - Universidad Autónoma de Madrid, Madrid, Spain.; Centre for Biomedical Network Research on Rare Diseases, Instituto de Salud Carlos III, Madrid, 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.; Centre for Biomedical Network Research on Rare Diseases, Instituto de Salud Carlos III, Madrid, Spain., Rey-Zamora D; Servicio de Genética, Instituto Ramón y Cajal de Investigación Sanitaria, Hospital Universitario Ramón y Cajal, Madrid, Spain., Rebolleda G; Department of Glaucoma, Instituto Ramón y Cajal de Investigación Sanitaria, Hospital Universitario Ramón y Cajal, Madrid, Spain., Muñoz-Negrete FJ; Department of Glaucoma, Instituto Ramón y Cajal de Investigación Sanitaria, Hospital Universitario Ramón y Cajal, Madrid, Spain., Tahsin-Swafiri S; Department of Genetics and Genomics, Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz, University Hospital - Universidad Autónoma de Madrid, Madrid, Spain.; Centre for Biomedical Network Research on Rare Diseases, Instituto de Salud Carlos III, Madrid, Spain., Gener B; Centre for Biomedical Network Research on Rare Diseases, Instituto de Salud Carlos III, Madrid, Spain.; Department of Genetics, BioCruces Health Research Institute, Cruces University Hospital, Bilbao, Spain., Moreno-Pelayo MA; Servicio de Genética, Instituto Ramón y Cajal de Investigación Sanitaria, Hospital Universitario Ramón y Cajal, Madrid, Spain.; Centre for Biomedical Network Research on Rare Diseases, Instituto de Salud Carlos III, 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.; Centre for Biomedical Network Research on Rare Diseases, Instituto de Salud Carlos III, Madrid, Spain., Villamar M; Servicio de Genética, Instituto Ramón y Cajal de Investigación Sanitaria, Hospital Universitario Ramón y Cajal, Madrid, Spain.; Centre for Biomedical Network Research on Rare Diseases, Instituto de Salud Carlos III, Madrid, Spain., Corton M; Department of Genetics and Genomics, Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz, University Hospital - Universidad Autónoma de Madrid, Madrid, Spain.; Centre for Biomedical Network Research on Rare Diseases, Instituto de Salud Carlos III, Madrid, Spain. |
| Source: | Frontiers in genetics [Front Genet] 2018 Oct 17; Vol. 9, pp. 479. Date of Electronic Publication: 2018 Oct 17 (Print Publication: 2018). |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101560621 Publication Model: eCollection Cited Medium: Print ISSN: 1664-8021 (Print) Linking ISSN: 16648021 NLM ISO Abbreviation: Front Genet Subsets: PubMed not MEDLINE |
| Database: | MEDLINE Ultimate |
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