FKBP10 and Bruck syndrome: phenotypic heterogeneity or call for reclassification?
Shaheen
Ranad
R
Al-Owain
Mohammed
M
Sakati
Nadia
N
Alzayed
Zayed S
ZS
Alkuraya
Fowzan S
FS
D000015:Abnormalities, Multiple / Q000145:classification* / Q000000981:diagnostic imaging / Q000235:genetics*; D000293:Adolescent; D024042:Collagen Type I / Q000235:genetics; D006720:Homozygote; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009154:Mutation / Q000235:genetics; D010641:Phenotype; D011859:Radiography; D035781:Siblings; D013577:Syndrome; D022021:Tacrolimus Binding Proteins / Q000235:genetics*
D024042:Collagen Type I; D022021:Tacrolimus Binding Proteins; C110054:FKBP10 protein, human