Contribution to carrier detection and genetic counselling in X linked retinoschisis.
X linked retinoschisis (RS) is a vitreoretinal disease resulting from microcystic degeneration of the macula associated with peripheral lesions. The disease gene has already been assigned to the distal short arm of the X chromosome (Xp22.2) by linkage studies. In order to contribute both to a better...
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| Izdano u: | J Med Genet |
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| Glavni autori: | , , , , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
BMJ Publishing Group
1991
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| Teme: | |
| Online pristup: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1016902/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1678432/ https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.28.6.383 |
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