Genotype-phenotype correlation in patients with Usher syndrome and pathogenic variants in MYO7A: implications for future clinical trials.
Por:
Galbis-Martínez L, Blanco-Kelly F, García-García G, Ávila-Fernández A, Jaijo T, Fuster-García C, Perea-Romero I, Zurita-Muñoz O, Jimenez-Rolando B, Carreño E, García-Sandoval B, Millán JM and Ayuso C
Publicada:
1 dic 2021
Ahead of Print:
1 feb 2021
Resumen:
We aimed to establish correlations between the clinical features of a cohort of Usher syndrome (USH) patients with pathogenic variants in MYO7A, type of pathogenic variant, and location on the protein domain.
Filiaciones:
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
:
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
:
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
:
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
:
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
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