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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Bibliografiset tiedot
Julkaisussa:Int J Mol Sci
Päätekijät: Brunetti-Pierri, Raffaella, Karali, Marianthi, Melillo, Paolo, Di Iorio, Valentina, De Benedictis, Antonella, Iaccarino, Gennarfrancesco, Testa, Francesco, Banfi, Sandro, Simonelli, Francesca
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: MDPI 2021
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Article
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC7914547/
https://ncbi.nlm.nih.gov/pubmed/33562422
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms22041681
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