title: Recessive MED with auricular swelling due to compound heterozygosity Arg279Tpr/Thr512Lys in the SLC26A2 gene.
authors.affiliation: Department of Paediatric Orthopaedic Surgery, Turku University Central Hospital, Turku, Finland. johanna.syvanen@tyks.fi
authors.forename: Johanna
authors.initials: J
authors.lastname: Syvänen
authors.forename: Ilkka
authors.initials: I
authors.lastname: Helenius
authors.forename: Matti
authors.initials: M
authors.lastname: Hero
authors.forename: Outi
authors.initials: O
authors.lastname: Mäkitie
authors.forename: Jaakko
authors.initials: J
authors.lastname: Ignatius
mesh_terms: D000483:Alleles; D019943:Amino Acid Substitution; D027321:Anion Transport Proteins / Q000235:genetics*; D002648:Child; D003025:Clubfoot / Q000235:genetics / Q000601:surgery; D004392:Dwarfism / Q000235:genetics*; D054644:Ear Auricle / Q000473:pathology*; D005808:Genes, Recessive; D006579:Heterozygote; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging / Q000235:genetics*; D010641:Phenotype; D011859:Radiography; D017422:Sequence Analysis, DNA; D000076988:Sulfate Transporters
chemical_list: D027321:Anion Transport Proteins; C089651:SLC26A2 protein, human; D000076988:Sulfate Transporters