American journal of ophthalmology۲۰۲۵۴ استنادنمایه شده در PubMed
Maximilian D Kong, Johnathan A Bailey, Abdhel Exinor, Noah Heaps, Jimmy Duong, Baichun Hou, Chanakarn Piamjitchol, Aykut Demirkol, Scott E Brodie, Janet R Sparrow, Stephen H Tsang
چکیده
To analyze the clinical characteristics of MAK-associated retinitis pigmentosa (MAK-RP) to better outline the natural history and outcome measurements of disease. Retrospective case series. 18 individuals (7 female) from 16 families with pathogenic mutations in the MAK gene and a diagnosis of…
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DOI: 10.1016/j.ajo.2025.06.031