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Cone-rod congenital amaurosis associated with congenital hypertrichosis: an autosomal recessive condition.
Two female cousins were found to be affected with severe retinal dystrophy characterised by visual impairment from birth and profound photophobia in the absence of night blindness. Minimal fundus changes with a small foveal atrophy in the older cousin and slight macular pigment epithelial changes su...
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| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
1989
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1015672/ https://ncbi.nlm.nih.gov/pubmed/2769722 |
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