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Journal Abstract Search


128 related items for PubMed ID: 10955475

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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
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  • 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
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  • 8. Spondylometaphyseal dysplasia: Sedaghatian type.
    Koutouby A, Habibullah J, Moinuddin FA.
    Am J Med Genet; 2000 Jan 31; 90(3):199-202. PubMed ID: 10678656
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  • 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
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  • 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
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  • 15. Two sibs with fibrochondrogenesis.
    Leeners B, Funk A, Cotarelo CL, Sauer I.
    Am J Med Genet A; 2004 Jun 15; 127A(3):318-20. PubMed ID: 15150788
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  • 16. Spondylometaphyseal dysplasia with cone-rod dystrophy.
    Turell M, Morrison S, Traboulsi EI.
    Ophthalmic Genet; 2010 Mar 15; 31(1):12-7. PubMed ID: 20141353
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