title: WNT1 mutation with recessive osteogenesis imperfecta and profound neurological phenotype.
authors.forename: Eissa
authors.initials: E
authors.lastname: Faqeih
authors.forename: Ranad
authors.initials: R
authors.lastname: Shaheen
authors.forename: Fowzan S
authors.initials: FS
authors.lastname: Alkuraya
mesh_terms: D001842:Bone and Bones / Q000000981:diagnostic imaging*; D005260:Female; D006801:Humans; D008958:Models, Molecular; D010013:Osteogenesis Imperfecta / Q000235:genetics*; D011487:Protein Conformation; D011859:Radiography; D051155:Wnt1 Protein / Q000235:genetics*
chemical_list: D051155:Wnt1 Protein
keywords: Academic medicine