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Expanded Phenotypic Spectrum of Retinopathies Associated with Autosomal Recessive and Dominant Mutations in PROM1.

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Bibliographic Details
Title: Expanded Phenotypic Spectrum of Retinopathies Associated with Autosomal Recessive and Dominant Mutations in PROM1.
Authors: Del Pozo-Valero M; Department of Genetics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid, Madrid, Spain., Martin-Merida I; Department of Genetics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid, Madrid, Spain; Center for Biomedical Network Research on Rare Diseases, Instituto de Salud Carlos III, Madrid, Spain., Jimenez-Rolando B; Department of Ophthalmology, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid, Madrid, Spain., Arteche A; Department of Genetics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid, Madrid, Spain., Avila-Fernandez A; Department of Genetics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid, Madrid, Spain; Center for Biomedical Network Research on Rare Diseases, Instituto de Salud Carlos III, Madrid, Spain., Blanco-Kelly F; Department of Genetics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid, Madrid, Spain; Center for Biomedical Network Research on Rare Diseases, Instituto de Salud Carlos III, Madrid, Spain., Riveiro-Alvarez R; Department of Genetics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid, Madrid, Spain., Van Cauwenbergh C; Center for Medical Genetics Ghent, Ghent University and Ghent University Hospital, Ghent, Belgium; Department of Ophthalmology, Ghent University and Ghent University Hospital, Ghent, Belgium., De Baere E; Center for Medical Genetics Ghent, Ghent University and Ghent University Hospital, Ghent, Belgium., Rivolta C; Department of Computational Biology, Unit of Medical Genetics, University of Lausanne, Lausanne, Switzerland; Department of Genetics and Genome Biology, University of Leicester, Leicester, United Kingdom., Garcia-Sandoval B; Department of Ophthalmology, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid, Madrid, Spain., Corton M; Department of Genetics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid, Madrid, Spain; Center for Biomedical Network Research on Rare Diseases, Instituto de Salud Carlos III, Madrid, Spain., Ayuso C; Department of Genetics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid, Madrid, Spain; Center for Biomedical Network Research on Rare Diseases, Instituto de Salud Carlos III, Madrid, Spain. Electronic address: cayuso@fjd.es.
Source: American journal of ophthalmology [Am J Ophthalmol] 2019 Nov; Vol. 207, pp. 204-214. Date of Electronic Publication: 2019 May 24.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Elsevier Science Country of Publication: United States NLM ID: 0370500 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-1891 (Electronic) Linking ISSN: 00029394 NLM ISO Abbreviation: Am J Ophthalmol Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1879-1891
DOI:10.1016/j.ajo.2019.05.014