RPL13 Variants Cause Spondyloepimetaphyseal Dysplasia with Severe Short Stature

Variants in genes encoding ribosomal proteins have thus far been associated with Diamond-Blackfan anemia, a rare inherited bone marrow failure, and isolated congenital asplenia. Here, we report one de novo missense variant and three de novo splice variants in RPL13, which encodes ribosomal protein R...

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Detalhes bibliográficos
Publicado no:Am J Hum Genet
Main 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
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2019
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Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6849359/
https://ncbi.nlm.nih.gov/pubmed/31630789
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2019.09.024
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