Article
Ophthalmic manifestations of Lamb-Shaffer syndrome: a case presentation and literature review.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus - 1 Jun 2023
Mahmud Haseeb, Gustainis Deividas, Jackson-Cook Colleen, Couser Natario
Abstract excerpt
Lamb-Shaffer syndrome, caused by haploinsufficiency of SOX5, leads to a unique constellation of dysmorphic features and intellectual delay. The SOX5 family of proteins plays an integral role in neuronal development. We present the clinical traits of an 11-year-old boy with Lamb-Shaffer syndrome and highlight the ocular findings of the syndrome reported thus far in the literature. Approximately 55% of all patients...
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