Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W.
Ballhausen
D
D
Bonafé
L
L
Terhal
P
P
Unger
S L
SL
Bellus
G
G
Classen
M
M
Hamel
B C
BC
Spranger
J
J
Zabel
B
B
Cohn
D H
DH
Cole
W G
WG
Hecht
J T
JT
Superti-Furga
A
A
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*
D027321:Anion Transport Proteins; D002352:Carrier Proteins; D026901:Membrane Transport Proteins; C089651:SLC26A2 protein, human; D000076988:Sulfate Transporters; D013431:Sulfates; D014364:Tryptophan; D001120:Arginine