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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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| Publicat a: | Int J Mol Sci |
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| Autors principals: | , , , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
MDPI
2021
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| Matèries: | |
| Accés en línia: | 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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