Variable brain phenotype primarily affects the brainstem and cerebellum in patients with osteogenesis imperfecta caused by recessive WNT1 mutations.
作者信息
Aldinger Kimberly A, Mendelsohn Nancy J, Chung Brian Hy, Zhang Wenjuan, Cohn Daniel H, Fernandez Bridget, Alkuraya Fowzan S, Dobyns William B, Curry Cynthia J
机构信息
Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA.
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.
出版信息
J Med Genet. 2016 Jun;53(6):427-30. doi: 10.1136/jmedgenet-2015-103476. Epub 2015 Dec 15.
Abstract
摘要
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