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Genotype-phenotype correlation in patients with Usher syndrome and pathogenic variants in MYO7A: implications for future clinical trials.

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Title: Genotype-phenotype correlation in patients with Usher syndrome and pathogenic variants in MYO7A: implications for future clinical trials.
Authors: Galbis-Martínez L; Department of Genetics, University Hospital Fundacion Jimenez Diaz, IIS-FJD, UAM, Madrid, Spain.; CIBERER, ISCIII, Madrid, Spain., Blanco-Kelly F; Department of Genetics, University Hospital Fundacion Jimenez Diaz, IIS-FJD, UAM, Madrid, Spain.; CIBERER, ISCIII, Madrid, Spain., García-García G; CIBERER, ISCIII, Madrid, Spain.; Unit of Genetics, University Hospital La Fe - IIS La Fe, Valencia, Spain.; Joint Unit for Rare Diseases IIS La Fe-CIPF, Valencia, Spain., Ávila-Fernández A; Department of Genetics, University Hospital Fundacion Jimenez Diaz, IIS-FJD, UAM, Madrid, Spain.; CIBERER, ISCIII, Madrid, Spain., Jaijo T; CIBERER, ISCIII, Madrid, Spain.; Unit of Genetics, University Hospital La Fe - IIS La Fe, Valencia, Spain.; Joint Unit for Rare Diseases IIS La Fe-CIPF, Valencia, Spain., Fuster-García C; CIBERER, ISCIII, Madrid, Spain.; Unit of Genetics, University Hospital La Fe - IIS La Fe, Valencia, Spain.; Joint Unit for Rare Diseases IIS La Fe-CIPF, Valencia, Spain., Perea-Romero I; Department of Genetics, University Hospital Fundacion Jimenez Diaz, IIS-FJD, UAM, Madrid, Spain.; CIBERER, ISCIII, Madrid, Spain., Zurita-Muñoz O; Department of Genetics, University Hospital Fundacion Jimenez Diaz, IIS-FJD, UAM, Madrid, Spain.; CIBERER, ISCIII, Madrid, Spain., Jimenez-Rolando B; CIBERER, ISCIII, Madrid, Spain.; Department of Ophthalmology, University Hospital Fundacion Jimenez Diaz, IIS-FJD, UAM, Madrid, Spain., Carreño E; CIBERER, ISCIII, Madrid, Spain.; Department of Ophthalmology, University Hospital Fundacion Jimenez Diaz, IIS-FJD, UAM, Madrid, Spain., García-Sandoval B; CIBERER, ISCIII, Madrid, Spain.; Department of Ophthalmology, University Hospital Fundacion Jimenez Diaz, IIS-FJD, UAM, Madrid, Spain., Millán JM; CIBERER, ISCIII, Madrid, Spain.; Unit of Genetics, University Hospital La Fe - IIS La Fe, Valencia, Spain.; Joint Unit for Rare Diseases IIS La Fe-CIPF, Valencia, Spain., Ayuso C; Department of Genetics, University Hospital Fundacion Jimenez Diaz, IIS-FJD, UAM, Madrid, Spain.; CIBERER, ISCIII, Madrid, Spain.
Source: Acta ophthalmologica [Acta Ophthalmol] 2021 Dec; Vol. 99 (8), pp. 922-930. Date of Electronic Publication: 2021 Feb 11.
Publication Type: Journal Article; Multicenter Study
Journal Info: Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 101468102 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1755-3768 (Electronic) Linking ISSN: 1755375X NLM ISO Abbreviation: Acta Ophthalmol Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Genotype-phenotype correlation in patients with Usher syndrome and pathogenic variants in MYO7A: implications for future clinical trials.
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  Data: <searchLink fieldCode="AU" term="%22Galbis-Martínez+L%22">Galbis-Martínez L</searchLink>; Department of Genetics, University Hospital Fundacion Jimenez Diaz, IIS-FJD, UAM, Madrid, Spain.; CIBERER, ISCIII, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Blanco-Kelly+F%22">Blanco-Kelly F</searchLink>; Department of Genetics, University Hospital Fundacion Jimenez Diaz, IIS-FJD, UAM, Madrid, Spain.; CIBERER, ISCIII, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22García-García+G%22">García-García G</searchLink>; CIBERER, ISCIII, Madrid, Spain.; Unit of Genetics, University Hospital La Fe - IIS La Fe, Valencia, Spain.; Joint Unit for Rare Diseases IIS La Fe-CIPF, Valencia, Spain.<br /><searchLink fieldCode="AU" term="%22Ávila-Fernández+A%22">Ávila-Fernández A</searchLink>; Department of Genetics, University Hospital Fundacion Jimenez Diaz, IIS-FJD, UAM, Madrid, Spain.; CIBERER, ISCIII, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Jaijo+T%22">Jaijo T</searchLink>; CIBERER, ISCIII, Madrid, Spain.; Unit of Genetics, University Hospital La Fe - IIS La Fe, Valencia, Spain.; Joint Unit for Rare Diseases IIS La Fe-CIPF, Valencia, Spain.<br /><searchLink fieldCode="AU" term="%22Fuster-García+C%22">Fuster-García C</searchLink>; CIBERER, ISCIII, Madrid, Spain.; Unit of Genetics, University Hospital La Fe - IIS La Fe, Valencia, Spain.; Joint Unit for Rare Diseases IIS La Fe-CIPF, Valencia, Spain.<br /><searchLink fieldCode="AU" term="%22Perea-Romero+I%22">Perea-Romero I</searchLink>; Department of Genetics, University Hospital Fundacion Jimenez Diaz, IIS-FJD, UAM, Madrid, Spain.; CIBERER, ISCIII, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Zurita-Muñoz+O%22">Zurita-Muñoz O</searchLink>; Department of Genetics, University Hospital Fundacion Jimenez Diaz, IIS-FJD, UAM, Madrid, Spain.; CIBERER, ISCIII, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Jimenez-Rolando+B%22">Jimenez-Rolando B</searchLink>; CIBERER, ISCIII, Madrid, Spain.; Department of Ophthalmology, University Hospital Fundacion Jimenez Diaz, IIS-FJD, UAM, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Carreño+E%22">Carreño E</searchLink>; CIBERER, ISCIII, Madrid, Spain.; Department of Ophthalmology, University Hospital Fundacion Jimenez Diaz, IIS-FJD, UAM, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22García-Sandoval+B%22">García-Sandoval B</searchLink>; CIBERER, ISCIII, Madrid, Spain.; Department of Ophthalmology, University Hospital Fundacion Jimenez Diaz, IIS-FJD, UAM, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Millán+JM%22">Millán JM</searchLink>; CIBERER, ISCIII, Madrid, Spain.; Unit of Genetics, University Hospital La Fe - IIS La Fe, Valencia, Spain.; Joint Unit for Rare Diseases IIS La Fe-CIPF, Valencia, Spain.<br /><searchLink fieldCode="AU" term="%22Ayuso+C%22">Ayuso C</searchLink>; Department of Genetics, University Hospital Fundacion Jimenez Diaz, IIS-FJD, UAM, Madrid, Spain.; CIBERER, ISCIII, Madrid, Spain.
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  Data: <searchLink fieldCode="JN" term="%22101468102%22">Acta ophthalmologica</searchLink> [Acta Ophthalmol] 2021 Dec; Vol. 99 (8), pp. 922-930. <i>Date of Electronic Publication: </i>2021 Feb 11.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Wiley-Blackwell%22">Wiley-Blackwell </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101468102 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1755-3768 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%221755375X%22">1755375X </searchLink><i>NLM ISO Abbreviation: </i>Acta Ophthalmol <i>Subsets: </i>MEDLINE
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