首页 | 本学科首页   官方微博 | 高级检索  
     


Expanding the Clinical Spectrum of Phenotypes Caused by Pathogenic Variants in PLOD2
Authors:Gabriela Ferraz Leal  Gen Nishimura  Ulrika Voss  Débora Romeo Bertola  Eva Åström  Johan Svensson  Guilherme Lopes Yamamoto  Anna Hammarsjö  Eva Horemuzova  Nikos Papadogiannakis  Erik Iwarsson  Emma Tham
Affiliation:1. Centro Integrado de Saúde Amaury de Medeiros, Universidade de Pernambuco, Recife, Brazil;2. Instituto de Medicina Integral Prof Fernando Figueira, Recife, Brazil;3. Intractable Disease Center, Saitama Medical University Hospital, Saitama, Japan;4. Department of Pediatric Radiology, Karolinska University Hospital, Stockholm, Sweden;5. Unidade de Genética Clínica, Instituto da Crian?a do Hospital das Clínicas da Faculdade de Medicina da Universidade de S?o Paulo, S?o Paulo, Brazil;6. Instituto de Biociências da Universidade de S?o Paulo, S?o Paulo, Brazil;7. Pediatric Neurology and Musculoskeletal Disorders and Home Care, Astrid Lindgren Children's Hospital at Karolinska University Hospital, Stockholm, Sweden;8. Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden;9. Department of Paediatrics, Sk?ne University Hospital, Lund University, Lund, Sweden;10. Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden;11. Department of Clinical Genetics, Karolinska University Hospital Stockholm, Stockholm, Sweden;12. Paediatric Endocrinology Unit, Karolinska University Hospital, Stockholm, Sweden;13. Department of Pathology, Karolinska University Hospital and Karolinska Institutet, Stockholm, Sweden;14. Department of Clinical Genetics, Karolinska University Hospital Stockholm, Stockholm, SwedenGG and ET contributed equally to this work.
Abstract:
Keywords:SKELETAL DYSPLASIA  OSTEOGENESIS IMPERFECTA  PLOD2  BRUCK SYNDROME  KYPHOMELIC DYSPLASIA  MESOMELIC DYSPLASIA KOZLOWSKI‐REARDON
设为首页 | 免责声明 | 关于勤云 | 加入收藏

Copyright©北京勤云科技发展有限公司  京ICP备09084417号