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

Kimberly A. Aldinger, Nancy J. Mendelsohn, Brian H.Y. Chung, Wenjuan Zhang, Daniel H. Cohn, Bridget Fernandez, Fowzan S. Alkuraya, William B. Dobyns, Cynthia J. Curry

Research output: Contribution to journalArticlepeer-review

27 Scopus citations
Original languageEnglish (US)
Pages (from-to)427-430
Number of pages4
JournalJournal of medical genetics
Issue number6
StatePublished - Jun 1 2016

Bibliographical note

Funding Information:
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.

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