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Clinical and genetic spectrums of 413 North African families with inherited retinal dystrophies and optic neuropathies
BACKGROUND: Inherited retinal dystrophies (IRD) and optic neuropathies (ION) are the two major causes world-wide of early visual impairment, frequently leading to legal blindness. These two groups of pathologies are highly heterogeneous and require combined clinical and molecular diagnoses to be sec...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9097391/ https://www.ncbi.nlm.nih.gov/pubmed/35551639 http://dx.doi.org/10.1186/s13023-022-02340-7 |