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Association of a Novel Intronic Variant in RPGR With Hypomorphic Phenotype of X-Linked Retinitis Pigmentosa
IMPORTANCE: Pathogenic variants in retinitis pigmentosa GTPase regulator (RPGR) gene typically lead to a severe form of X-linked retinitis pigmentosa, which is associated with early severe vision loss. OBJECTIVE: To investigate an X-linked retinal degeneration family with atypical preservation of vi...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | JAMA Ophthalmol |
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| Κύριοι συγγραφείς: | , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
American Medical Association
2020
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7516822/ https://ncbi.nlm.nih.gov/pubmed/32970112 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1001/jamaophthalmol.2020.3634 |
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