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Article

Expanding the phenotypic and genotypic spectrum of patients with HGSNAT-related retinopathy.

Ophthalmic genetics - 1 Apr 2024

da Palma Mariana Matioli, Marra Molly, Igelman Austin D, Ku Cristy A, Burr Amanda, Andersen Katherine, Everett Lesley A, Porto Fernanda B O, Sallum Juliana Maria Ferraz, Yang Paul, Pennesi Mark E

Abstract excerpt

BACKGROUND: Variants in HGSNAT have historically been associated with syndromic mucopolysaccharidosis type IIIC (MPSIIIC) but more recent studies demonstrate cases of HGSNAT-related non-syndromic retinitis pigmentosa. We describe and expand the genotypic and phenotypic spectrum of this disease. MATERIALS AND METHODS: This is a retrospective, observational, case series of 11 patients with pericentral retinitis...

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Identifiers

PMID: 37592806
DOI: 10.1080/13816810.2023.2245035

Genes

HGSNAT

Variants

Provenance

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