Schmid type of metaphyseal chondrodysplasia and COL10A1 mutations - Findings in 10 patients

American Journal of Medical Genetics

Volumn 137 A, Issue 3, 2005, Pages 241-248

  Mäkitie, Outi ^a,b,e   Susic, Miki ^a   Ward, Leanne ^c,d   Barclay, Catherine ^a   Glorieux, Francis H ^d   Cole, William G ^a  

^a HOSPITAL FOR SICK CHILDREN RESEARCH INSTITUTE   (Canada)

^b HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^c UNIVERSITY OF OTTAWA   (Canada)

^d MCGILL UNIVERSITY   (Canada)

^e UNIVERSITY OF HELSINKI   (Finland)

Author keywords

Chondrodysplasia; Collagen X; Coxa vara; Dominant mutation; Growth plate; Hypertrophic chondrocytes

Indexed keywords

COLLAGEN TYPE 10;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BONE BOWING; CARTILAGE CELL; CHILD; CHONDRODYSPLASIA; CLINICAL ARTICLE; CLINICAL FEATURE; COL10A1 GENE; COXA VARA; DISEASE CLASSIFICATION; DISEASE SEVERITY; FEMALE; GENE; GENE MUTATION; GROWTH PLATE; HUMAN; LIMB DEFORMITY; MALE; METAPHYSIS; ORTHOPEDIC SURGERY; PRIORITY JOURNAL; RADIOGRAPHY; SHORT STATURE;

ADOLESCENT; ADULT; BONE AND BONES; CHILD; CHILD, PRESCHOOL; COLLAGEN TYPE X; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; LIMB DEFORMITIES, CONGENITAL; MALE; MUTATION; OSTEOCHONDRODYSPLASIAS;

EID: 24344500743     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30855     Document Type: Article

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