Mutations in the known genes are not the major cause of MED; distinctive phenotypic entities among patients with no identified mutations

European Journal of Human Genetics

Volumn 13, Issue 3, 2005, Pages 292-301

  Jakkula, Eveliina ^a   Mäkitie, Outi ^b,c   Czarny Ratacjzak, Malwina ^d,e   Jackson, Gail C ^f,g   Damignani, Rita ^b   Susic, Miki ^b   Briggs, Michael D ^f   Cole, William G ^b   Ala Kokko, Leena ^a,d,h  

^a UNIVERSITY OF OULU   (Finland)

^b HOSPITAL FOR SICK CHILDREN   (Canada)

^c HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^d Center for Gene Therapy   (United States)

^e POZNAN UNIVERSITY OF MEDICAL SCIENCES   (Poland)

^f UNIVERSITY OF MANCHESTER   (United Kingdom)

^g ST MARY S HOSPITAL   (United Kingdom)

^h TULANE UNIVERSITY HEALTH SCIENCES CENTER   (United States)

Author keywords

Cartilage; Chondrodysplasia; COL9A1; COL9A2; COMP; DTDST; MATN3; MED

Indexed keywords

CARRIER PROTEIN; COLLAGEN TYPE 9; MATRIX PROTEIN; SCLEROPROTEIN;

ADULT; AGED; ARTICLE; BONE DYSPLASIA; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; DEVELOPMENTAL DISORDER; DISEASE SEVERITY; FEMALE; FEMUR EPIPHYSIS; FEMUR HEAD; FEMUR NECK; GENE LOCUS; GENE MUTATION; HUMAN; MALE; MULTIPLE EPIPHYSEAL DYSPLASIA; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; ONSET AGE; OSSIFICATION; PHENOTYPE; PRIORITY JOURNAL; RADIOLOGICAL PROCEDURES;

ADOLESCENT; ADULT; ANION TRANSPORT PROTEINS; CARRIER PROTEINS; CHILD; CHILD, PRESCHOOL; COLLAGEN TYPE IX; DNA MUTATIONAL ANALYSIS; EXTRACELLULAR MATRIX PROTEINS; FEMALE; GLYCOPROTEINS; HUMANS; MALE; MEMBRANE TRANSPORT PROTEINS; MUTATION; OSTEOCHONDRODYSPLASIAS; PHENOTYPE; RNA;

EID: 14944381814     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201314     Document Type: Article

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