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Obstetric Case Report

Spondylometaphyseal dysplasia-Sedaghatian type associated with intra-partum cardiac arrhythmia and neonatal death

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Pages 851-853 | Published online: 02 Jul 2009

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Rayanne B. Burl, Stephanie Clough, Edward Sendler, Molly Estill & Stephen A. Krawetz. (2018) Sperm RNA elements as markers of health. Systems Biology in Reproductive Medicine 64:1, pages 25-38.
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Niha Peshimam, Hani Farah, Richard Caswell, Sian Ellard, Wajanat Jan, Alistair D. Calder, Jan Cobben, Ujwal Kariholu & Harry G. Leitch. (2022) Sedaghatian spondylometaphyseal dysplasia in two siblings. European Journal of Medical Genetics 65:8, pages 104541.
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Dorian M. Cheff, Alysson R. Muotri, Brent R. Stockwell, Edward E. Schmidt, Qitao Ran, Reena V. Kartha, Simon C. Johnson, Plavi Mittal, Elias S. J. Arnér, Kristen M. Wigby, Matthew D. Hall & Sanath Kumar Ramesh. (2021) Development of therapies for rare genetic disorders of GPX4: roadmap and opportunities. Orphanet Journal of Rare Diseases 16:1.
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Amanda C Smith, Alan J Mears, Ryan Bunker, Afsana Ahmed, Malcolm MacKenzie, Jeremy A Schwartzentruber, Chandree L Beaulieu, Emanuela Ferretti, Jacek Majewski, Dennis E Bulman, Fatma Cakmak Celik, Kym M Boycott & Gail E Graham. (2014) Mutations in the enzyme glutathione peroxidase 4 cause Sedaghatian-type spondylometaphyseal dysplasia. Journal of Medical Genetics 51:7, pages 470-474.
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Canan Aygun, Fatma Cakmak Celik, Mehmet Selim Nural, Emine Azak, Şukru Kucukoduk, Gonul Ogur & Lutfi Incesu. (2012) Simplified gyral pattern with cerebellar hypoplasia in Sedaghatian type spondylometaphyseal dysplasia: A clinical report and review of the literature. American Journal of Medical Genetics Part A 158A:6, pages 1400-1405.
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