Two novel bi‐allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features

Abstract

Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, Texas Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas Texas Children s Hospital, Houston, Texas Development and Behavioural Pediatrics Department, Institute of Child Health and The Children Hospital, Lahore, Pakistan Division of Neuroradiology, Edward B. Singleton Department of Radiology, Texas Children s Hospital, Houston, Texas Department of Medical Genetics, Health Sciences University, Istanbul Kanuni Sultan Suleyman Research and Training Hospital, Istanbul, Turkey Department of Pediatrics, Faculty of Medicine, Kuwait University, Safat, Kuwait Human Genetics Center, University of Texas Health Science Center at Houston, Texas Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas Department of Pediatrics, Baylor College of Medicine, Houston, Texas