title: Clinical and genetic distinction of Schimke immuno-osseous dysplasia and cartilage-hair hypoplasia.
authors.affiliation: Centre for Molecular Medicine and Therapeutics, Child and Family Research Institute, Department of Medical Genetics, University of British Columbia, Vancouver, Canada.
authors.forename: Alireza
authors.initials: A
authors.lastname: Baradaran-Heravi
authors.forename: Christian
authors.initials: C
authors.lastname: Thiel
authors.forename: Anita
authors.initials: A
authors.lastname: Rauch
authors.forename: Martin
authors.initials: M
authors.lastname: Zenker
authors.forename: Cornelius F
authors.initials: CF
authors.lastname: Boerkoel
authors.forename: Ilkka
authors.initials: I
authors.lastname: Kaitila
mesh_terms: 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
chemical_list: C412482:SMARCAL1 protein, human; D004722:Endoribonucleases; C058330:mitochondrial RNA-processing endoribonuclease; D004265:DNA Helicases