JAMA ophthalmology۲۰۲۶نمایه شده در PubMed
Shabnam Raji, Robert Edward MacLaren, Peter Charbel Issa, Jasmina Cehajic-Kapetanovic
چکیده
Recent insights into impaired glutamylation caused by distal truncating variants in RPGR ORF15 and its association with the cone-dominated phenotype have provided the first molecular evidence of a genotype-phenotype correlation in male individuals with X-linked RPGR-related retinal dystrophy,…
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DOI: 10.1001/jamaophthalmol.2025.5492