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Molecular and clinical analysis of 27 German patients with Leber congenital amaurosis
Leber congenital amaurosis (LCA) is the earliest and most severe form of all inherited retinal dystrophies (IRD) and the most frequent cause of inherited blindness in children. The phenotypic overlap with other early-onset and severe IRDs as well as difficulties associated with the ophthalmic examin...
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| Veröffentlicht in: | PLoS One |
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| Hauptverfasser: | , , , , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
Public Library of Science
2018
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6303042/ https://ncbi.nlm.nih.gov/pubmed/30576320 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0205380 |
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