Spondylocarpotarsal synostosis: long-term follow-up of a case due to FLNB mutations

Am J Med Genet A. 2008 May 1;146A(9):1230-3. doi: 10.1002/ajmg.a.32303.
No abstract available

Publication types

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

MeSH terms

  • Adolescent
  • Brain / pathology
  • Codon, Nonsense*
  • Contractile Proteins / genetics*
  • Female
  • Filamins
  • Human Growth Hormone / deficiency
  • Humans
  • Microfilament Proteins / genetics*
  • Platybasia / genetics
  • Platybasia / pathology
  • Spine / pathology
  • Syndrome
  • Synostosis / genetics*
  • Synostosis / pathology

Substances

  • Codon, Nonsense
  • Contractile Proteins
  • FLNB protein, human
  • Filamins
  • Microfilament Proteins
  • Human Growth Hormone