title: Variable brain phenotype primarily affects the brainstem and cerebellum in patients with osteogenesis imperfecta caused by recessive WNT1 mutations.
authors.affiliation: Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA.
authors.forename: Kimberly A
authors.initials: KA
authors.lastname: Aldinger
authors.affiliation: 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.
authors.forename: Nancy J
authors.initials: NJ
authors.lastname: Mendelsohn
authors.affiliation: 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.
authors.forename: Brian Hy
authors.initials: BH
authors.lastname: Chung
authors.affiliation: Department of Molecular, Cell and Developmental Biology, Department of Orthopaedic Surgery, University of California, Los Angeles, Los Angeles, California, USA.
authors.forename: Wenjuan
authors.initials: W
authors.lastname: Zhang
authors.affiliation: Department of Molecular, Cell and Developmental Biology, Department of Orthopaedic Surgery, University of California, Los Angeles, Los Angeles, California, USA.
authors.forename: Daniel H
authors.initials: DH
authors.lastname: Cohn
authors.affiliation: Disciplines of Genetics and Medicine, Faculty of Medicine, Memorial University of Newfoundland, St. John's, Newfoundland, Canada.
authors.forename: Bridget
authors.initials: B
authors.lastname: Fernandez
authors.affiliation: 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.
authors.forename: Fowzan S
authors.initials: FS
authors.lastname: Alkuraya
authors.affiliation: 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.
authors.forename: William B
authors.initials: WB
authors.lastname: Dobyns
authors.affiliation: Department of Pediatrics, University of California, San Francisco, San Francisco, California, USA Genetic Medicine Central California, Fresno, California, USA.
authors.forename: Cynthia J
authors.initials: CJ
authors.lastname: Curry
mesh_terms: D001921:Brain / Q000000981:diagnostic imaging / Q000378:metabolism* / Q000473:pathology; D001933:Brain Stem / Q000000981:diagnostic imaging / Q000378:metabolism* / Q000473:pathology; D002531:Cerebellum / Q000000981:diagnostic imaging / Q000378:metabolism* / Q000473:pathology; D002658:Developmental Disabilities / Q000000981:diagnostic imaging / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation; D009422:Nervous System Diseases / Q000000981:diagnostic imaging / Q000235:genetics; D010013:Osteogenesis Imperfecta / Q000000981:diagnostic imaging / Q000235:genetics*; D010641:Phenotype; D051155:Wnt1 Protein / Q000235:genetics*
chemical_list: D051155:Wnt1 Protein
keywords: Developmental; Genetics; Neurology