The Prader-Willi-like phenotype in fragile X patients: a designation facilitating clinical (and molecular) differential diagnosis

J Med Genet. 1994 Oct;31(10):820. doi: 10.1136/jmg.31.10.820.
No abstract available

Publication types

  • Comment
  • Letter

MeSH terms

  • Chromosome Aberrations
  • Chromosome Disorders
  • Chromosome Mapping
  • Chromosomes, Human, Pair 15
  • Diagnosis, Differential
  • Fragile X Mental Retardation Protein
  • Fragile X Syndrome / diagnosis*
  • Fragile X Syndrome / genetics
  • Humans
  • Nerve Tissue Proteins / genetics
  • Phenotype
  • Prader-Willi Syndrome / diagnosis*
  • Prader-Willi Syndrome / genetics
  • RNA-Binding Proteins / genetics

Substances

  • FMR1 protein, human
  • Nerve Tissue Proteins
  • RNA-Binding Proteins
  • Fragile X Mental Retardation Protein