RPL13 Variants Cause Spondyloepimetaphyseal Dysplasia with Severe Short Stature
RPL13 变异导致脊椎骨骺干骺端发育不良伴严重矮小症
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2019.09.024
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