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Clinical and Molecular Characterization of Achromatopsia Patients: A Longitudinal Study

Achromatopsia (ACHM) is a rare genetic disorder of infantile onset affecting cone photoreceptors. To determine the extent of progressive retinal changes in achromatopsia, we performed a detailed longitudinal phenotyping and genetic characterization of an Italian cohort comprising 21 ACHM patients (1...

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Detalles Bibliográficos
Autores principales:	Brunetti-Pierri, Raffaella, Karali, Marianthi, Melillo, Paolo, Di Iorio, Valentina, De Benedictis, Antonella, Iaccarino, Gennarfrancesco, Testa, Francesco, Banfi, Sandro, Simonelli, Francesca
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2021
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7914547/ https://www.ncbi.nlm.nih.gov/pubmed/33562422 http://dx.doi.org/10.3390/ijms22041681

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