Recessive MED with auricular swelling due to compound heterozygosity Arg279Tpr/Thr512Lys in the SLC26A2 gene

Am J Med Genet A. 2013 Jun;161A(6):1491-4. doi: 10.1002/ajmg.a.35872. Epub 2013 Apr 23.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Amino Acid Substitution
  • Anion Transport Proteins / genetics*
  • Child
  • Clubfoot / genetics
  • Clubfoot / surgery
  • Dwarfism / genetics*
  • Ear Auricle / pathology*
  • Genes, Recessive
  • Heterozygote
  • Humans
  • Male
  • Mutation, Missense
  • Osteochondrodysplasias / diagnostic imaging
  • Osteochondrodysplasias / genetics*
  • Phenotype
  • Radiography
  • Sequence Analysis, DNA
  • Sulfate Transporters

Substances

  • Anion Transport Proteins
  • SLC26A2 protein, human
  • Sulfate Transporters

Supplementary concepts

  • Diastrophic dysplasia