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Pseudocoloboma-like maculopathy with biallelic RDH12 missense mutations
BACKGROUND: Hereditary maculopathy is a group of clinically and genetically heterogeneous disorders. With distinctive clinical features, subtypes of macular atrophy may correlate with their genetic defects. METHODS: Seven patients from six families with adolescent/adult-onset maculopathy were examin...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BMJ Publishing Group
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10447408/ https://www.ncbi.nlm.nih.gov/pubmed/36690427 http://dx.doi.org/10.1136/jmg-2022-108918 |