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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Библиографические подробности
Главные авторы: Kaplan, J, Pelet, A, Hentati, H, Jeanpierre, M, Briard, M L, Journel, H, Munnich, A, Dufier, J L
Формат: Artigo
Язык:Inglês
Опубликовано: 1991
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Research Article
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC1016902/
https://ncbi.nlm.nih.gov/pubmed/1678432
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