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RPL13 Variants Cause Spondyloepimetaphyseal Dysplasia with Severe Short Stature
Cedric Le Caignec, Benjamin Ory, François Lamoureux, Marie Francoise O'Donohue, Emilien Orgebin, Pierre Lindenbaum, Stéphane Téletchéa, Manon Saby, Anna Hurst, Katherine Nelson, Shawn R. Gilbert, Yael Wilnai, Leonid Zeitlin, Eitan Segev, Robel Tesfaye, Mathilde Nizon, Benjamin Cogne, Stéphane Bezieau, Loic Geoffroy, Antoine Hamel
*Corresponding author for this work
- Service de Cardiologie
- Nantes Université
- Laboratoire de Biologie Moléculaire Eucaryote
- Université de Paris
- University of Alabama at Birmingham
- Tel Aviv Sourasky Medical Center
- Centre Hospitalier Régional Universitaire de Tours
- Etablissement français du sang
- Université d'Angers
- Center for Genomics and Transcriptomics and Praxis für Humangenetik Tübingen
- OPKO Health, Inc.
- Paris 7-Paris Diderot University
Research output: Contribution to journal › Article › peer-review
21
Scopus
citations