Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus۲۰۲۴مرور۳ استنادنمایه شده در PubMed
Andrew Kaler, Natario Couser
چکیده
The FDXR-related disorder is caused by pathogenic variants in the FDXR gene. Including our case, a total of 47 patients have been reported. The most common genotypes are the homozygous c.1174C>T (p.R392W) variant and homozygous c.916C>T (p.R306C) variant. Optic atrophy is the most common feature…
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DOI: 10.1016/j.jaapos.2024.104102