Article

Ocular Manifestations in a Cohort of 43 Patients with KBG Syndrome

2023-06-01

Abstract excerpt

<h4>ABSTRACT</h4> Ophthalmological conditions are underreported in patients with KBG syndrome, which is classically described as presenting with dental, developmental, intellectual, skeletal, and craniofacial abnormalities. This study analyzed the prevalence of four ophthalmological conditions (strabismus, astigmatism, myopia, hyperopia) in 43 patients with KBG syndrome carrying pathogenic variants in ANKRD11 or d...

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Literature Corpus work: c223bc7b-79a1-59cc-b137-c5287b204fa8
DOI: 10.1101/2023.05.31.23290743

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