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Visual impairment and progressive phthisis bulbi caused by recessive pathogenic variant in MARK3
Developmental eye defects often severely reduce vision. Despite extensive efforts, for a substantial fraction of these cases the molecular causes are unknown. Recessive eye disorders are frequent in consanguineous populations and such large families with multiple affected individuals provide an oppo...
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| Pubblicato in: | Hum Mol Genet |
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| Autori principali: | , , , , , , , , , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Oxford University Press
2018
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6048992/ https://ncbi.nlm.nih.gov/pubmed/29771303 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddy180 |
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