首页> Frontiers in genetics> Parental Mosaicism in <i>PAX6</i> Causes Intra-Familial Variability: Implications for Genetic Counseling of Congenital Aniridia and Microphthalmia.

Parental Mosaicism in <i>PAX6</i> Causes Intra-Familial Variability: Implications for Genetic Counseling of Congenital Aniridia and Microphthalmia.

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第一作者： María,Tarilonte

第一单位： Department of Genetics and Genomics, Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz, University Hospital - Universidad Autónoma de Madrid, Madrid, Spain.

作者： María,Tarilonte ^[1] ; Matías,Morín ^[2] ; Patricia,Ramos ^[1] ; Marta,Galdós ^[3] ; Fiona,Blanco-Kelly ^[4] ; Cristina,Villaverde ^[4] ; Dolores,Rey-Zamora ^[5] ; Gema,Rebolleda ^[6] ; Francisco J,Muñoz-Negrete ^[6] ; Saoud,Tahsin-Swafiri ^[4] ; Blanca,Gener ^[7] ; Miguel-Angel,Moreno-Pelayo ^[2] ; Carmen,Ayuso ^[4] ; Manuela,Villamar ^[2] ; Marta,Corton ^[4]

作者单位： Department of Genetics and Genomics, Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz, University Hospital - Universidad Autónoma de Madrid, Madrid, Spain. ^[1] 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. ^[2] Department of Ophthalmology, Cruces University Hospital, Bilbao, Spain. ^[3] 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. ^[4] Servicio de Genética, Instituto Ramón y Cajal de Investigación Sanitaria, Hospital Universitario Ramón y Cajal, Madrid, Spain. ^[5] Department of Glaucoma, Instituto Ramón y Cajal de Investigación Sanitaria, Hospital Universitario Ramón y Cajal, Madrid, Spain. ^[6] 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. ^[7]

关键词 PAX6 aniridia microphthalmia parental mosaicism post-zygotic variants variable expressivity

DOI 10.3389/fgene.2018.00479

PMID 30386378

发布时间 2020-10-01

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