title: Two novel large ANKH deletion mutations in sporadic cases with craniometaphyseal dysplasia.
authors.forename: E H
authors.initials: EH
authors.lastname: Dutra
authors.forename: I-P
authors.initials: IP
authors.lastname: Chen
authors.forename: T L
authors.initials: TL
authors.lastname: McGregor
authors.forename: J D
authors.initials: JD
authors.lastname: Ranells
authors.forename: E J
authors.initials: EJ
authors.lastname: Reichenberger
mesh_terms: D001483:Base Sequence; D001848:Bone Diseases, Developmental / Q000175:diagnosis / Q000235:genetics*; D002675:Child, Preschool; D019465:Craniofacial Abnormalities / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006801:Humans; D015576:Hyperostosis / Q000175:diagnosis / Q000235:genetics*; D006972:Hypertelorism / Q000175:diagnosis / Q000235:genetics*; D007223:Infant; D028061:Phosphate Transport Proteins / Q000235:genetics*; D017384:Sequence Deletion
chemical_list: C498770:ANKH protein, human; D028061:Phosphate Transport Proteins