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

J Med Genet 2016 06 15;53(6):427-30. Epub 2015 Dec 15.

Department of Pediatrics, University of California, San Francisco, San Francisco, California, USA Genetic Medicine Central California, Fresno, California, USA.

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http://dx.doi.org/10.1136/jmedgenet-2015-103476DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4898782PMC
June 2016
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