title: Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W.
authors.forename: D
authors.initials: D
authors.lastname: Ballhausen
authors.forename: L
authors.initials: L
authors.lastname: Bonafé
authors.forename: P
authors.initials: P
authors.lastname: Terhal
authors.forename: S L
authors.initials: SL
authors.lastname: Unger
authors.forename: G
authors.initials: G
authors.lastname: Bellus
authors.forename: M
authors.initials: M
authors.lastname: Classen
authors.forename: B C
authors.initials: BC
authors.lastname: Hamel
authors.forename: J
authors.initials: J
authors.lastname: Spranger
authors.forename: B
authors.initials: B
authors.lastname: Zabel
authors.forename: D H
authors.initials: DH
authors.lastname: Cohn
authors.forename: W G
authors.initials: WG
authors.lastname: Cole
authors.forename: J T
authors.initials: JT
authors.lastname: Hecht
authors.forename: A
authors.initials: A
authors.lastname: Superti-Furga
mesh_terms: D000293:Adolescent; D000328:Adult; D019943:Amino Acid Substitution / Q000235:genetics; D027321:Anion Transport Proteins; D001120:Arginine / Q000235:genetics*; D001692:Biological Transport / Q000235:genetics; D002352:Carrier Proteins / Q000235:genetics* / Q000378:metabolism; D002648:Child; D002874:Chromosome Mapping / Q000379:methods*; D005260:Female; D005808:Genes, Recessive / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D008297:Male; D026901:Membrane Transport Proteins; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D010009:Osteochondrodysplasias / Q000235:genetics*; D010641:Phenotype; D000076988:Sulfate Transporters; D013431:Sulfates / Q000378:metabolism; D014364:Tryptophan / Q000235:genetics*
chemical_list: D027321:Anion Transport Proteins; D002352:Carrier Proteins; D026901:Membrane Transport Proteins; C089651:SLC26A2 protein, human; D000076988:Sulfate Transporters; D013431:Sulfates; D014364:Tryptophan; D001120:Arginine