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...

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Dades bibliogràfiques
Publicat a:JAMA Ophthalmol
Autors principals: Cehajic-Kapetanovic, Jasmina, McClements, Michelle E., Whitfield, Jennifer, Shanks, Morag, Clouston, Penny, MacLaren, Robert E.
Format: Artigo
Idioma:Inglês
Publicat: American Medical Association 2020
Matèries:
Original Investigation
Accés en línia: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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