title: Schmid-type metaphyseal chondrodysplasia as the result of a collagen type X defect due to a novel COL10A1 nonsense mutation: A case report of a novel COL10A1 mutation.
authors.affiliation: Orthopaedic Department, University of Ulm, Oberer Eselsberg 45, 89081, Ulm, Germany. julia.woelfle@rku.de
authors.forename: Julia V
authors.initials: JV
authors.lastname: Woelfle
authors.forename: R E
authors.initials: RE
authors.lastname: Brenner
authors.forename: B
authors.initials: B
authors.lastname: Zabel
authors.forename: H
authors.initials: H
authors.lastname: Reichel
authors.forename: M
authors.initials: M
authors.lastname: Nelitz
mesh_terms: D000328:Adult; D018389:Codon, Nonsense; D024121:Collagen Type X / Q000235:genetics* / Q000378:metabolism; D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D008297:Male; D010009:Osteochondrodysplasias / Q000235:genetics / Q000378:metabolism; D010375:Pedigree; D013997:Time Factors
chemical_list: D018389:Codon, Nonsense; D024121:Collagen Type X; D004247:DNA