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

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

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Medicine & Life Sciences