Exome sequencing identifies PEX6 mutations in three cases diagnosed with Retinitis Pigmentosa and hearing impairment

PURPOSE: The aim of the present work is the molecular diagnosis of three patients with deafness and retinal degeneration. METHODS: Three patients from two unrelated families were initially analyzed with custom gene panels for Usher genes, non-syndromic hearing loss, or inherited syndromic retinopath...

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Detalles Bibliográficos
Autores principales: García-García, Gema, Sanchez-Navarro, Iker, Aller, Elena, Jaijo, Teresa, Fuster-Garcia, Carla, Rodríguez-Munoz, Ana, Vallejo, Elena, Tellería, Juan José, Vázquez, Selma, Beltrán, Sergi, Derdak, Sophia, Zurita, Olga, Villaverde-Montero, Cristina, Avila-Fernández, Almudena, Corton, Marta, Blanco-Kelly, Fiona, Hakonarson, Hakon, Millán, José M., Ayuso, Carmen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2020
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7090270/
https://www.ncbi.nlm.nih.gov/pubmed/32214787

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