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4. Mutations in the enzyme glutathione peroxidase 4 cause Sedaghatian-type spondylometaphyseal dysplasia. Smith AC, Mears AJ, Bunker R, Ahmed A, MacKenzie M, Schwartzentruber JA, Beaulieu CL, Ferretti E, FORGE Canada Consortium, Majewski J, Bulman DE, Celik FC, Boycott KM, Graham GE. J Med Genet; 2014 Jul; 51(7):470-4. PubMed ID: 24706940 [Abstract] [Full Text] [Related]
5. Sedaghatian spondylometaphyseal dysplasia in two siblings. Peshimam N, Farah H, Caswell R, Ellard S, Jan W, Calder AD, Cobben J, Kariholu U, Leitch HG. Eur J Med Genet; 2022 Aug; 65(8):104541. PubMed ID: 35718083 [Abstract] [Full Text] [Related]
11. Sedaghatian spondylometaphyseal dysplasia with pachygyria and absence of the corpus callosum. English SJ, Gayatri N, Arthur R, Crow YJ. Am J Med Genet A; 2006 Sep 01; 140A(17):1854-8. PubMed ID: 16892303 [Abstract] [Full Text] [Related]
12. [Autosomal recessive spondylometaphyseal dysplasia. Apropos of 3 familial cases]. Meziane AO, Meziane A, Ksiyer M, Bennani-Smires C, Khalifa HH. Ann Genet; 1987 Sep 01; 30(4):216-20. PubMed ID: 3501265 [Abstract] [Full Text] [Related]
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