Visual Function and Ophthalmological Findings in CHARGE Syndrome: Revision of Literature, Definition of a New Clinical Spectrum and Genotype Phenotype Correlation

CHARGE syndrome (CS) is a rare genetic disease causing multiple anatomical defects and sensory impairment. Visual function is usually reported by caregivers and has never been described with a structured behavioral assessment. Our primary objective was to describe ocular abnormalities, visual functi...

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Detalles Bibliográficos
Autores principales: Onesimo, Roberta, Ricci, Daniela, Agazzi, Cristiana, Leone, Simona, Petrianni, Maria, Orazi, Lorenzo, Amore, Filippo, Salerni, Annabella, Leoni, Chiara, Chieffo, Daniela, Tartaglia, Marco, Mercuri, Eugenio, Zampino, Giuseppe
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8303791/
https://www.ncbi.nlm.nih.gov/pubmed/34202106
http://dx.doi.org/10.3390/genes12070972

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