Mandibuloacral dysplasia caused by homozygosity for the R527H mutation in lamin A/C

J Med Genet. 2003 Nov;40(11):854-7. doi: 10.1136/jmg.40.11.854.
No abstract available

Publication types

  • Case Reports
  • Multicenter Study

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology
  • Adolescent
  • Amino Acid Substitution
  • Arginine / genetics
  • Craniofacial Abnormalities / genetics*
  • Craniofacial Abnormalities / pathology
  • Genes, Recessive / genetics
  • Genotype
  • Histidine / genetics
  • Homozygote*
  • Humans
  • Lamin Type A / genetics*
  • Lipodystrophy / genetics*
  • Lipodystrophy / pathology
  • Male
  • Musculoskeletal Abnormalities / genetics*
  • Musculoskeletal Abnormalities / pathology
  • Mutation*
  • Phenotype

Substances

  • Lamin Type A
  • lamin C
  • Histidine
  • Arginine

Associated data

  • OMIM/248370