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

Affiliations

• ¹ Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK.
• ² Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.
• ³ Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
• ⁴ Texas Children's Hospital, Houston, Texas, USA.
• ⁵ Development and Behavioural Pediatrics Department, Institute of Child Health and The Children Hospital, Lahore, Pakistan.
• ⁶ Division of Neuroradiology, Edward B. Singleton Department of Radiology, Texas Children's Hospital, Houston, Texas, USA.
• ⁷ Department of Medical Genetics, Health Sciences University, Istanbul Kanuni Sultan Suleyman Research and Training Hospital, Istanbul, Turkey.
• ⁸ Department of Pediatrics, Faculty of Medicine, Kuwait University, Safat, Kuwait.
• ⁹ Human Genetics Center, University of Texas Health Science Center at Houston, Texas, USA.
• ¹⁰ Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.
• ¹¹ Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.