A new three-generational family with frontometaphyseal dysplasia, male-to-female transmission, and a previously reported FLNA mutation

Am J Med Genet A. 2005 Jan 15;132A(2):222. doi: 10.1002/ajmg.a.30396.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology
  • Adolescent
  • Contractile Proteins / genetics*
  • Family Health
  • Female
  • Filamins
  • Fingers / abnormalities
  • Frontal Bone / abnormalities*
  • Humans
  • Hypertelorism / pathology*
  • Male
  • Microfilament Proteins / genetics*
  • Mutation*
  • Pedigree
  • Syndrome
  • Tooth Abnormalities

Substances

  • Contractile Proteins
  • Filamins
  • Microfilament Proteins