New autosomal recessive syndrome of mental retardation, epilepsy, short stature, and skeletal dysplasia

Am J Med Genet. 1992 Oct 1;44(3):315-20. doi: 10.1002/ajmg.1320440310.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adolescent
  • Adult
  • Bone Diseases, Developmental / diagnostic imaging
  • Bone Diseases, Developmental / genetics*
  • Dwarfism / genetics*
  • Epilepsy / genetics*
  • Female
  • Genes, Recessive
  • Humans
  • Intellectual Disability / genetics*
  • Male
  • Radiography
  • Syndrome