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

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  • Contributors KAA, WBD and CJC participated in the design of the study. NJM, BHYC, WZ, DHC, BF, FSA and CJC collected and/or generated data. KAA, WBD and CJC analysed and interpreted the data. KAA, WBD, DHC and CJC drafted the manuscript. All coauthors read and approved the final manuscript.

  • Funding Research reported in this publication was supported by the National Institute of Neurological Disorders and Stroke (NINDS), the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), the National Institute of Dental and Craniofacial Research (NIDCR) and the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) of the National Institutes of Health (NIH) under award numbers 1R01NS092772 to WBD, P01HD070394 to DHC, R01DE019567 to DHC and R01AR062651 to DHC, and by the SK Yee Medical Foundation and Orthopaedic Hospital Research Center at UCLA.

  • Competing interests None declared.

  • Ethics approval The Institutional Review Board at Seattle Children's Hospital, Seattle, Washington, USA.

  • Provenance and peer review Not commissioned; externally peer reviewed.