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Monoallelic loss-of-function BMP2 variants result in BMP2-related skeletal dysplasia spectrum.
Priestley, Jessica R C; Deshwar, Ashish R; Murthy, Harsha; D'Agostino, Maria D; Dupuis, Lucie; Gangaram, Balram; Gray, Christopher; Jobling, Rebekah; Pannia, Emanuela; Platzer, Konrad; Prescott, Katrina; Redman, Melody; Rippert, Alyssa L; Rosenfeld, Jill A; Scott, Daryl A; Wang, Yi W; Schmederer, Zelia; Dalal, Ashwin; Sarma, Asodu S; Skraban, Cara; Dowling, James J; Mendoza-Londono, Roberto; Slavotinek, Anne; Bhoj, Elizabeth J.
Afiliação
  • Priestley JRC; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, PA.
  • Deshwar AR; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children and the University of Toronto, Toronto, ON, Canada; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.
  • Murthy H; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.
  • D'Agostino MD; Division of Medical Genetics, Departments of Specialized Medicine and Human Genetics, McGill University Health Center, Montreal, QC, Canada.
  • Dupuis L; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children and the University of Toronto, Toronto, ON, Canada.
  • Gangaram B; Division of Medical Genetics, University of California San Francisco, San Francisco, CA.
  • Gray C; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, PA.
  • Jobling R; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children and the University of Toronto, Toronto, ON, Canada; Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, ON, Canada.
  • Pannia E; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.
  • Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
  • Prescott K; Clinical Genetics, The Leeds Teaching Hospital NHS Trust, Leeds, West Yorkshire, United Kingdom.
  • Redman M; Clinical Genetics, The Leeds Teaching Hospital NHS Trust, Leeds, West Yorkshire, United Kingdom.
  • Rippert AL; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, PA.
  • Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Baylor Genetics Laboratories, Houston, TX.
  • Scott DA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX.
  • Wang YW; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children and the University of Toronto, Toronto, ON, Canada; Division of Medical Genetics, Departments of Specialized Medicine and Human Genetics, McGill University Health Center, Montreal, QC, Canada.
  • Schmederer Z; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany; Medizinisch Genetisches Zentrum, Munich, Germany.
  • Dalal A; Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India.
  • Sarma AS; Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India.
  • Skraban C; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, PA; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.
  • Dowling JJ; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada; Division of Neurology, The Hospital for Sick Children, Toronto, ON, Canada.
  • Mendoza-Londono R; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children and the University of Toronto, Toronto, ON, Canada.
  • Slavotinek A; Division of Medical Genetics, University of California San Francisco, San Francisco, CA; Division of Human Genetics, Department of Pediatrics, Cincinnati Children's Hospital, Cincinnati, OH.
  • Bhoj EJ; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, PA; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA. Electronic address: bhoje@chop.edu.
Genet Med ; 25(8): 100863, 2023 08.
Article em En | MEDLINE | ID: mdl-37125634
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Osteocondrodisplasias / Peixe-Zebra Tipo de estudo: Observational_studies Limite: Animals / Humans Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Panamá País de publicação: Estados Unidos
Texto completo
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XML
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Osteocondrodisplasias / Peixe-Zebra Tipo de estudo: Observational_studies Limite: Animals / Humans Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Panamá País de publicação: Estados Unidos