Schmid-type metaphyseal chondrodysplasia as the result of a collagen type X defect due to a novel COL10A1 nonsense mutation

Journal of Orthopaedic Science

Volumn 16, Issue 2, 2011, Pages 245-249

  Woelfle, Julia V ^a   Brenner, R E ^a   Zabel, B ^b   Reichel, H ^a   Nelitz, M ^a  

^a UNIVERSITY OF ULM   (Germany)

^b UNIVERSITY OF FREIBURG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 10; GENOMIC DNA; DNA;

ADOLESCENT; ARTICLE; BODY HEIGHT; BONE BOWING; CASE REPORT; CAST APPLICATION; CHONDRODYSPLASIA; CLINICAL FEATURE; COLLAGEN DEFECT; COLLAGEN TYPE 10A1 GENE; COXA VARA; ELBOW DISEASE; FLEXION CONTRACTURE; GAIT DISORDER; GENETIC ASSOCIATION; GENETIC SCREENING; HETEROZYGOTE DETECTION; HIP PAIN; HUMAN; IMMOBILIZATION; LORDOSIS; MALE; METAPHYSIS DYSOSTOSIS; MUTATIONAL ANALYSIS; MUTATOR GENE; NONSENSE MUTATION; OSTEOTOMY; POLYMERASE CHAIN REACTION; SHORT STATURE; SINGLE NUCLEOTIDE POLYMORPHISM; SPLINTING; VARUS DEFORMITY; ADULT; FEMALE; FOLLOW UP; GENETICS; INFANT; METABOLISM; NUCLEOTIDE SEQUENCE; PEDIGREE; STOP CODON; TIME;

ADULT; CODON, NONSENSE; COLLAGEN TYPE X; DNA; DNA MUTATIONAL ANALYSIS; FEMALE; FOLLOW-UP STUDIES; HUMANS; INFANT; MALE; OSTEOCHONDRODYSPLASIAS; PEDIGREE; TIME FACTORS;

EID: 80051689854     PISSN: 09492658     EISSN: 14362023     Source Type: Journal    
DOI: 10.1007/s00776-011-0021-y     Document Type: Article

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