Spondylometaphyseal dysplasia

Mutations in the enzyme glutathione peroxidase 4 cause Sedaghatian-type spondylometaphyseal dysplasia
Amanda C Smith, Alan J Mears, Ryan Bunker, Afsana Ahmed, Malcolm MacKenzie, Jeremy A Schwartzentruber, Chandree L Beaulieu, Emanuela Ferretti, FORGE Canada Consortium, Jacek Majewski, Dennis E Bulman, Fatma Cakmak Celik, Kym M Boycott, Gail E Graham

Journal of Medical Genetics Jul 2014, 51 (7) 470-474; DOI: 10.1136/jmedgenet-2013-102218

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Spondylometaphyseal dysplasia