Variable skeletal phenotypes associated with biallelic variants in PRKG2

Affiliations

• ¹ NIHR Biomedical Research Centre, Oxford, Oxfordshire, UK.
• ² Wellcome Centre for Human Genetics, Oxford University, Oxford, Oxfordshire, UK.
• ³ INGEMM, IdiPAZ and Skeletal Dysplasia Multidisciplinary Unit (UMDE, ERN-BOND), Hospital Universitario La Paz, Madrid, Spain.
• ⁴ Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, Oxfordshire, UK.
• ⁵ Department of Pediatric Neurology, Ghaem Hospital, Mashhad University of Medical Sciences, Mashhad, Iran.
• ⁶ Radiology Department, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
• ⁷ Genetics Research Centre, Molecular and Clinical Sciences Institute, St. George's, University of London, London, UK.
• ⁸ Next Generation Genetic Polyclinic, Razavi International Hospital, Mashhad, Iran.
• ⁹ Department of Paediatrics, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
• ¹⁰ School of Health Sciences, Translational Medicine, University of Skövde, Skövde, Sweden.
• ¹¹ Department of Neuromuscular Disorders, Queen Square Institute of Neurology, UCL, London, UK.
• ¹² CIBERER, ISCIII, Madrid, Spain.
• ¹³ Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, Oxfordshire, UK debbie.shears@ouh.nhs.uk jenny@well.ox.ac.uk.
• ¹⁴ NIHR Biomedical Research Centre, Oxford, Oxfordshire, UK debbie.shears@ouh.nhs.uk jenny@well.ox.ac.uk.