Monoallelic loss-of-function BMP2 variants result in BMP2-related skeletal dysplasia spectrum
Year: 2023
Type: article
Study design: Observational Study
Source: Genetics in Medicine
Authors: Jessica R.C. Priestley, Ashish R. Deshwar, Harsha Murthy, Maria D. D’Agostino, Lucie Dupuis, Balram Gangaram, Christopher Gray, Rebekah Jobling, Emanuela Pannia, Konrad Platzer, Katrina Prescott, Melody Redman, Alyssa L. Rippert, Jill A. Rosenfeld, Daryl A. Scott, Yi W. Wang, Zelia Schmederer, Ashwin Dalal, Asodu S. Sarma, Cara Skraban, James J. Dowling, Roberto Mendoza-Londono, Anne Slavotinek, Elizabeth J. Bhoj
Institutions: Children's Hospital of Philadelphia, University of Toronto, Hospital for Sick Children, McGill University Health Centre, McGill University, University of California, San Francisco, University Hospital Leipzig, Leipzig University, Leeds Teaching Hospitals NHS Trust, Baylor College of Medicine, Baylor Genetics, Medical Genetics Center, Institut für Humangenetik, Centre for DNA Fingerprinting and Diagnostics, University of Pennsylvania, Cincinnati Children's Hospital Medical Center
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: bronze
Funders: University of Pennsylvania, Cincinnati Children's Hospital Medical Center, McGill University, McGill University Health Centre, University of Toronto, Hospital for Sick Children, National Institutes of Health, Perelman School of Medicine, University of Pennsylvania, Centre for DNA Fingerprinting and Diagnostics, National Institute of Child Health and Human Development, Eunice Kennedy Shriver National Institute of Child Health and Human Development
OpenAlex ID: W4367299014