RPL13 Variants Cause Spondyloepimetaphyseal Dysplasia with Severe Short Stature

Authors: Le Caignec, Cedric, Ory, Benjamin, Lamoureux, François, O'Donohue, Marie-Francoise, Orgebin, Emilien, Lindenbaum, Pierre, Téletchéa, Stéphane, Saby, Manon, Hurst, Anna, Nelson, Katherine, Gilbert, Shawn R., Wilnai, Yael, Zeitlin, Leonid, Segev, Eitan, Tesfaye, Robel, Nizon, Mathilde, Cogne, Benjamin, Bezieau, Stéphane, Geoffroy, Loic, Hamel, Antoine, Mayrargue, Emmanuelle, de Courtivron, Benoît, Decock-Giraudaud, Aliette, Charrier, Céline, Pichon, Olivier, Retière, Christelle, Redon, Richard, Pepler, Alexander, McWalter, Kirsty, Da Costa, Lydie, Toutain, Annick, Gleizes, Pierre-Emmanuel, Baud'huin, Marc, Isidor, Bertrand

Source: American journal of human genetics. 105(5):1040-1047

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