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https://doi.org/10.14300/mnnc.2023.18061

Stickler syndrome. Genetic heterogeneity. Clinical polymorphism. Novel mutations

[Original research] [Pediatrics]
Tamara Ivanovna Kadurina; Татьяна Николаевна Воронцова; Natalya Sergeevna Osinovskaya; Alina Nazymzhanovna Gulamshaeva;

Stickler syndrome is a connective tissue disorder from the group of hereditary collagenopathies, associated with ophthalmologic manifestations (rhegmatogenous retinal detachment, vitreous abnormalities, myopia, cataract etc.) and musculoskeletal problems (precocious arthritis, joint hypermobility, skeletal abnormalities etc.). This article describes genetic heterogeneity and clinical polymorphism of Stickler syndrome, and presents Stickler syndrome clinical progression in 2 patients with novel mutations.

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Keywords: Stickler syndromes, collagen, retinal detachment, vitreous, glaucoma, genotype-phenotype, novel mutations