Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus۲۰۲۴گزارش موردنمایه شده در PubMed
Whitney Stuard Sambhariya, Jefferson Doyle, Courtney L Kraus
چکیده
Hereditary mucoepithelial dysplasia (HMD) is a rare autosomal dominant dysplastic dyskeratotic epithelial syndrome caused by pathogenic variants in the SREBF1 gene. This syndrome is associated with a variety of ocular conditions, including cataracts, nystagmus, keratitis, meibomian gland…
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DOI: 10.1016/j.jaapos.2024.104059