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...

Descripción completa

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

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7914547/
https://www.ncbi.nlm.nih.gov/pubmed/33562422
http://dx.doi.org/10.3390/ijms22041681

Ejemplares similares