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RPL13 Variants Cause Spondyloepimetaphyseal Dysplasia with Severe Short Stature.
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.
Afiliação
  • Le Caignec C; CHU Nantes, Service de génétique médicale, F-44000 Nantes, France.
  • Ory B; Nantes Université, INSERM, Bone sarcomas and remodeling of calcified tissues, UMR 1238, F-44000 Nantes, France.
  • Lamoureux F; Nantes Université, INSERM, Bone sarcomas and remodeling of calcified tissues, UMR 1238, F-44000 Nantes, France.
  • O'Donohue MF; Laboratoire de Biologie Moléculaire Eucaryote, Centre de Biologie Intégrative (CBI), Université de Toulouse, UPS, CNRS, 31062 Toulouse, France.
  • Orgebin E; Nantes Université, INSERM, Bone sarcomas and remodeling of calcified tissues, UMR 1238, F-44000 Nantes, France.
  • Lindenbaum P; L'institut du thorax, INSERM, CNRS, Université de Nantes, F-44000 Nantes, France.
  • Téletchéa S; Nantes Université, CNRS, Unité Fonctionnalité et Ingénierie des Protéines (UFIP), UMR CNRS 6286, F-44000 Nantes, France.
  • Saby M; INSERM U1149/ERL 8252, Inflammation Research Center, 75018 Paris, France.
  • Hurst A; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35233, USA.
  • Nelson K; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35233, USA.
  • Gilbert SR; Children's of Alabama, Department of Orthopaedic Surgery, University of Alabama at Birmingham, Birmingham, AL 35233, USA.
  • Wilnai Y; Genetic Institute, Tel Aviv Sourasky Medical Center, Tel Aviv 6423906, Israel.
  • Zeitlin L; Pediatric Orthopedic Department, Dana-Dwek Children's Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv 6423906, Israel.
  • Segev E; Pediatric Orthopedic Department, Dana-Dwek Children's Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv 6423906, Israel.
  • Tesfaye R; Nantes Université, INSERM, Bone sarcomas and remodeling of calcified tissues, UMR 1238, F-44000 Nantes, France.
  • Nizon M; CHU Nantes, Service de génétique médicale, F-44000 Nantes, France.
  • Cogne B; CHU Nantes, Service de génétique médicale, F-44000 Nantes, France.
  • Bezieau S; CHU Nantes, Service de génétique médicale, F-44000 Nantes, France.
  • Geoffroy L; Service d'Orthopédie Pédiatrique, CHU de Nantes, F-44000 Nantes, France.
  • Hamel A; Service d'Orthopédie Pédiatrique, CHU de Nantes, F-44000 Nantes, France.
  • Mayrargue E; Service d'Orthopédie Pédiatrique, CHU de Nantes, F-44000 Nantes, France.
  • de Courtivron B; Service de Chirurgie Orthopédique Pédiatrique, CHU de Tours, 37044 Tours, France.
  • Decock-Giraudaud A; CRB/Tumorothèque, CHU de Tours, 37044 Tours, France.
  • Charrier C; Nantes Université, INSERM, Bone sarcomas and remodeling of calcified tissues, UMR 1238, F-44000 Nantes, France.
  • Pichon O; CHU Nantes, Service de génétique médicale, F-44000 Nantes, France.
  • Retière C; Etablissement Français du Sang, F-44000 Nantes, France; CRCINA, INSERM, CNRS, Université d'Angers, Université de Nantes, F-44000 Nantes, France.
  • Redon R; L'institut du thorax, INSERM, CNRS, Université de Nantes, F-44000 Nantes, France.
  • Pepler A; Center for Genomics and Transcriptomics and Praxis für Humangenetik Tübingen, 72076 Tübingen, Germany.
  • McWalter K; GeneDx, Gaithersburg, MD 20877, USA.
  • Da Costa L; INSERM U1149/ERL 8252, Inflammation Research Center, 75018 Paris, France; AP-HP, Service d'Hématologie Biologique, Hôpital R. Debré, Université Paris 7 Denis Diderot, Sorbonne Paris Cité, 75019 Paris, France.
  • Toutain A; Service de Génétique, CHU de Tours, 37044 Tours, France.
  • Gleizes PE; Laboratoire de Biologie Moléculaire Eucaryote, Centre de Biologie Intégrative (CBI), Université de Toulouse, UPS, CNRS, 31062 Toulouse, France.
  • Baud'huin M; Nantes Université, CHU Nantes, INSERM, Bone sarcomas and remodeling of calcified tissues, UMR 1238, F-44000 Nantes, France. Electronic address: marc.baudhuin@univ-nantes.fr.
  • Isidor B; CHU Nantes, Service de génétique médicale, F-44000 Nantes, France. Electronic address: bertrand.isidor@chu-nantes.fr.
Am J Hum Genet ; 105(5): 1040-1047, 2019 11 07.
Article em En | MEDLINE | ID: mdl-31630789
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas Ribossômicas / Doenças do Desenvolvimento Ósseo / Mutação de Sentido Incorreto / Nanismo / Proteínas de Neoplasias Limite: Animals / Humans / Male Idioma: En Revista: Am J Hum Genet Ano de publicação: 2019 Tipo de documento: Article País de afiliação: França
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas Ribossômicas / Doenças do Desenvolvimento Ósseo / Mutação de Sentido Incorreto / Nanismo / Proteínas de Neoplasias Limite: Animals / Humans / Male Idioma: En Revista: Am J Hum Genet Ano de publicação: 2019 Tipo de documento: Article País de afiliação: França