Your browser doesn't support javascript.
loading
Identification of a Recognizable Progressive Skeletal Dysplasia Caused by RSPRY1 Mutations.
Faden, Maha; AlZahrani, Fatema; Mendoza-Londono, Roberto; Dupuis, Lucie; Hartley, Taila; Kannu, Peter; Raiman, Julian A; Howard, Andrew; Qin, Wen; Tetreault, Martine; Xi, Joan Qiongchao; Al-Thamer, Imadeddin; Maas, Richard L; Boycott, Kym; Alkuraya, Fowzan S.
Afiliação
  • Faden M; Department of Pediatrics, King Saud Medical Complex, Riyadh 11196, Saudi Arabia.
  • AlZahrani F; Department of Genetics, King Faisal and Research Center, Riyadh 11211, Saudi Arabia.
  • Mendoza-Londono R; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children and University of Toronto, Toronto, ON M5G 1X8, Canada; The Bone Health Centre, The Hospital for Sick Children and University of Toronto, Toronto, ON M5G 1X8, Canada.
  • Dupuis L; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children and University of Toronto, Toronto, ON M5G 1X8, Canada; The Bone Health Centre, The Hospital for Sick Children and University of Toronto, Toronto, ON M5G 1X8, Canada.
  • Hartley T; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada.
  • Kannu P; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children and University of Toronto, Toronto, ON M5G 1X8, Canada; The Bone Health Centre, The Hospital for Sick Children and University of Toronto, Toronto, ON M5G 1X8, Canada.
  • Raiman JA; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children and University of Toronto, Toronto, ON M5G 1X8, Canada.
  • Howard A; The Bone Health Centre, The Hospital for Sick Children and University of Toronto, Toronto, ON M5G 1X8, Canada; Division of Orthopedic Surgery, The Hospital for Sick Children and University of Toronto, Toronto, ON M5G 1X8, Canada.
  • Qin W; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada.
  • Tetreault M; Department of Human Genetics, McGill University, Montreal, QC H3A 0G4, Canada; McGill University and Genome Quebec Innovation Center, Montreal, QC H3A 0G4, Canada.
  • Xi JQ; Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA.
  • Al-Thamer I; Deparment of Radiology, King Saud Medical Complex, Riyadh 11196, Saudi Arabia.
  • Maas RL; Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA.
  • Boycott K; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada.
  • Alkuraya FS; Department of Genetics, King Faisal and Research Center, Riyadh 11211, Saudi Arabia; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh 11533, Saudi Arabia. Electronic address: falkuraya@kfshrc.edu.sa.
Am J Hum Genet ; 97(4): 608-15, 2015 Oct 01.
Article em En | MEDLINE | ID: mdl-26365341
Assuntos
Palavras-chave
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Osteocondrodisplasias / Doenças do Desenvolvimento Ósseo / Ossificação Heterotópica / Genes Recessivos / Anormalidades Musculoesqueléticas / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Animals / Child / Female / Humans / Male Idioma: En Revista: Am J Hum Genet Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Arábia Saudita
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Osteocondrodisplasias / Doenças do Desenvolvimento Ósseo / Ossificação Heterotópica / Genes Recessivos / Anormalidades Musculoesqueléticas / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Animals / Child / Female / Humans / Male Idioma: En Revista: Am J Hum Genet Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Arábia Saudita