Two novel large ANKH deletion mutations in sporadic cases with craniometaphyseal dysplasia

Clin Genet. 2012 Jan;81(1):93-5. doi: 10.1111/j.1399-0004.2011.01700.x.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Bone Diseases, Developmental / diagnosis
  • Bone Diseases, Developmental / genetics*
  • Child, Preschool
  • Craniofacial Abnormalities / diagnosis
  • Craniofacial Abnormalities / genetics*
  • Female
  • Humans
  • Hyperostosis / diagnosis
  • Hyperostosis / genetics*
  • Hypertelorism / diagnosis
  • Hypertelorism / genetics*
  • Infant
  • Phosphate Transport Proteins / genetics*
  • Sequence Deletion*

Substances

  • ANKH protein, human
  • Phosphate Transport Proteins

Supplementary concepts

  • Schwartz-Lelek syndrome