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Page 1
A case of blepharophimosis: Freeman Sheldon syndrome.
Bowman S, Noble G, Rahmani B, Mets M, Ralay Ranaivo H, Castelluccio V. Bowman S, et al. Among authors: castelluccio v. Ophthalmic Genet. 2022 Feb;43(1):130-133. doi: 10.1080/13816810.2021.1989603. Epub 2021 Oct 19. Ophthalmic Genet. 2022. PMID: 34664542
Expanding the spectrum of CEP55-associated disease to viable phenotypes.
Barrie ES, Overwater E, van Haelst MM, Motazacker MM, Truxal KV, Crist E, Mostafavi R, Pivnick EK, Choudhri AF, Narumanchi T, Castelluccio V, Walsh LE, Garganta C, Gastier-Foster JM. Barrie ES, et al. Among authors: castelluccio v. Am J Med Genet A. 2020 May;182(5):1201-1208. doi: 10.1002/ajmg.a.61512. Epub 2020 Feb 25. Am J Med Genet A. 2020. PMID: 32100459