title: Maternal mosaicism of an ANKH mutation in a family with craniometaphyseal dysplasia.
authors: Department of Pediatrics, National Defense Medical College, Tokorozawa, Japan.
authors: Tamaki
authors: T
authors: Kato
authors: Hiroshi
authors: H
authors: Matsumoto
authors: Ayako
authors: A
authors: Chida
authors: Hajime
authors: H
authors: Wakamatsu
authors: Shigeaki
authors: S
authors: Nonoyama
mesh_terms: D001848:Bone Diseases, Developmental / Q000235:genetics* / Q000378:metabolism; D019465:Craniofacial Abnormalities / Q000235:genetics* / Q000378:metabolism; D004247:DNA / Q000235:genetics*; D005260:Female; D006801:Humans; D015576:Hyperostosis / Q000235:genetics* / Q000378:metabolism; D006972:Hypertelorism / Q000235:genetics* / Q000378:metabolism; D007223:Infant; D009030:Mosaicism; D009154:Mutation; D010375:Pedigree; D028061:Phosphate Transport Proteins / Q000235:genetics* / Q000378:metabolism
chemical_list: C498770:ANKH protein, human; D028061:Phosphate Transport Proteins; D004247:DNA