Variable brain phenotype primarily affects the brainstem and cerebellum in patients with osteogenesis imperfecta caused by recessive WNT1 mutations

J Med Genet. 2016 Jun;53(6):427-30. doi: 10.1136/jmedgenet-2015-103476. Epub 2015 Dec 15.

¹ Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA.
² Medical Genetics Division, Children's Hospitals and Clinics of Minnesota, Minneapolis, Minnesota, USA Division of Genetics, Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota, USA.
³ Department of Paediatrics and Adolescent Medicine, Department of Obstetrics and Gynaecology, Centre for Genomic Sciences, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong, Hong Kong.
⁴ Department of Molecular, Cell and Developmental Biology, Department of Orthopaedic Surgery, University of California, Los Angeles, Los Angeles, California, USA.
⁵ Disciplines of Genetics and Medicine, Faculty of Medicine, Memorial University of Newfoundland, St. John's, Newfoundland, Canada.
⁶ Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
⁷ Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA Department of Pediatrics, University of Washington, Seattle, Washington, USA Department of Neurology, University of Washington, Seattle, Washington, USA.
⁸ Department of Pediatrics, University of California, San Francisco, San Francisco, California, USA Genetic Medicine Central California, Fresno, California, USA.

No abstract available

Keywords: Developmental; Genetics; Neurology.

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