FKBP10 and Bruck syndrome: phenotypic heterogeneity or call for reclassification?

Am J Hum Genet. 2010 Aug 13;87(2):306-7; author reply 308. doi: 10.1016/j.ajhg.2010.05.020.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Comment

MeSH terms

  • Abnormalities, Multiple / classification*
  • Abnormalities, Multiple / diagnostic imaging
  • Abnormalities, Multiple / genetics*
  • Adolescent
  • Collagen Type I / genetics
  • Homozygote
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Mutation / genetics
  • Phenotype
  • Radiography
  • Siblings
  • Syndrome
  • Tacrolimus Binding Proteins / genetics*

Substances

  • Collagen Type I
  • Tacrolimus Binding Proteins
  • FKBP10 protein, human