Bone Reports (Oct 2020)
Novel RPL13 variants and evidence for incomplete penetrance in a human ribosomopathy with spondyloepimetaphyseal dysplasia
- Alice Costantini,
- Jessica J. Alm,
- Francesca Tonelli,
- Helena Valta,
- Céline Huber,
- Anh N. Tran,
- Valentina Daponte,
- Nadi Kirova,
- Yong-Uk Kwon,
- Jung Yun Bae,
- Woo Yeong Chung,
- Shengjiang Tan,
- Yves Sznajer,
- Gen Nishimura,
- Tuomas Näreoja,
- Alan J. Warren,
- Valérie Cormier-Daire,
- Ok-Hwa Kim,
- Antonella Forlino,
- Tae-Joon Cho,
- Outi Mäkitie
Affiliations
- Alice Costantini
- Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden; Corresponding author.
- Jessica J. Alm
- Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden
- Francesca Tonelli
- Department of Molecular Medicine, University of Pavia, Pavia, Italy
- Helena Valta
- Metabolic Bone Clinic, University of Helsinki and Helsinki University Hospital, Helsinki, Finland
- Céline Huber
- Department of Clinical Genetics, Imagine Institute, Paris, France
- Anh N. Tran
- Department of Laboratory Medicine, Karolinska Institutet, Stockholm, Sweden
- Valentina Daponte
- Department of Molecular Medicine, University of Pavia, Pavia, Italy
- Nadi Kirova
- Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden
- Yong-Uk Kwon
- Department of Orthopaedic Surgery, Inje University College of Medicine, Busan, Republic of Korea
- Jung Yun Bae
- Department of Orthopaedic Surgery, Pusan National University Yangsan Hospital, Yangsan, Republic of Korea
- Woo Yeong Chung
- Department of Pediatrics, Busan Paik Hospital, Busan, Kosovo, Republic of
- Shengjiang Tan
- Department of Haematology, University of Cambridge, Cambridge, United Kingdom
- Yves Sznajer
- Center for Human Genetic, Cliniques universitaires Saint-Luc, UCLouvain, Cliniques universitaires St. Luc, Brussels, Belgium
- Gen Nishimura
- Center for Intractable Diseases, Saitama Medical University Hospital, Saitama, Japan
- Tuomas Näreoja
- Department of Laboratory Medicine, Karolinska Institutet, Stockholm, Sweden
- Alan J. Warren
- Department of Haematology, University of Cambridge, Cambridge, United Kingdom
- Valérie Cormier-Daire
- Department of Clinical Genetics, Imagine Institute, Paris, France
- Ok-Hwa Kim
- Pediatric Radiology Section, Woorisoa Children's Hospital, Seoul, Republic of Korea
- Antonella Forlino
- Department of Molecular Medicine, University of Pavia, Pavia, Italy
- Tae-Joon Cho
- Division of Pediatric Orthopaedics, Seoul National University Children's Hospital, Seoul, Republic of Korea
- Outi Mäkitie
- Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden; Metabolic Bone Clinic, University of Helsinki and Helsinki University Hospital, Helsinki, Finland; Folkhälsan Institute of Genetics, Helsinki, Finland
- Journal volume & issue
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Vol. 13
p. 100647
