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

J Orthop Sci. 2011 Mar;16(2):245-9. doi: 10.1007/s00776-011-0021-y. Epub 2011 Mar 2.

Authors

Julia V Woelfle¹, R E Brenner, B Zabel, H Reichel, M Nelitz

Affiliation

¹ Orthopaedic Department, University of Ulm, Oberer Eselsberg 45, 89081, Ulm, Germany. julia.woelfle@rku.de

PMID: 21360259
DOI: 10.1007/s00776-011-0021-y

No abstract available

Publication types

Case Reports

MeSH terms

Adult
Codon, Nonsense*
Collagen Type X / genetics*
Collagen Type X / metabolism
DNA / genetics*
DNA Mutational Analysis
Female
Follow-Up Studies
Humans
Infant
Male
Osteochondrodysplasias / genetics
Osteochondrodysplasias / metabolism
Pedigree
Time Factors

Substances

Codon, Nonsense
Collagen Type X
DNA

Supplementary concepts

Metaphyseal chondrodysplasia Schmid type