ROSAH syndrome mimicking chronic uveitis
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DOI: 10.1111/cge.14286
Abstract: To suggest a unique missense variant candidate based on long‐term ophthalmological changes and associated systemic signs described in five patients from two unrelated families affected by an autosomal dominant multi‐systemic disorder including Retinal dystrophy, Optic… read more here.
Keywords: unique missense; missense variant; syndrome mimicking; rosah syndrome ... See more keywords