Maternal mosaicism of an ANKH mutation in a family with craniometaphyseal dysplasia

Pediatr Int. 2013 Apr;55(2):254-6. doi: 10.1111/ped.12067.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Bone Diseases, Developmental / genetics*
  • Bone Diseases, Developmental / metabolism
  • Craniofacial Abnormalities / genetics*
  • Craniofacial Abnormalities / metabolism
  • DNA / genetics*
  • Female
  • Humans
  • Hyperostosis / genetics*
  • Hyperostosis / metabolism
  • Hypertelorism / genetics*
  • Hypertelorism / metabolism
  • Infant
  • Mosaicism*
  • Mutation*
  • Pedigree
  • Phosphate Transport Proteins / genetics*
  • Phosphate Transport Proteins / metabolism

Substances

  • ANKH protein, human
  • Phosphate Transport Proteins
  • DNA

Supplementary concepts

  • Schwartz-Lelek syndrome