Clinical and genetic distinction of Schimke immuno-osseous dysplasia and cartilage-hair hypoplasia.
Baradaran-Heravi
Alireza
A
Centre for Molecular Medicine and Therapeutics, Child and Family Research Institute, Department of Medical Genetics, University of British Columbia, Vancouver, Canada.
Thiel
Christian
C
Rauch
Anita
A
Zenker
Martin
M
Boerkoel
Cornelius F
CF
Kaitila
Ilkka
I
D002357:Cartilage Diseases / Q000235:genetics*; D004265:DNA Helicases / Q000235:genetics; D004722:Endoribonucleases / Q000235:genetics*; D006197:Hair / Q000002:abnormalities; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000235:genetics*; D009154:Mutation; D010009:Osteochondrodysplasias / Q000235:genetics*; D013577:Syndrome
C412482:SMARCAL1 protein, human; D004722:Endoribonucleases; C058330:mitochondrial RNA-processing endoribonuclease; D004265:DNA Helicases