Clinical phenotype and molecular diagnosis of multiple epiphyseal dysplasia with relative hip sparing during childhood (EDM2)

American Journal of Medical Genetics

Volumn 112, Issue 2, 2002, Pages 144-153

  Fiedler, J ^a   Stove J ^a   Heber, F ^b   Brenner, R E ^a  

^a UNIVERSITY OF ULM   (Germany)

^b Orthopedic Practice   (Germany)

Author keywords

COL9A2; Collagen fibril; EDM2; Multiple epiphyseal dysplasia; Mutation analysis

Indexed keywords

COLLAGEN FIBER;

ADOLESCENT; AGED; ARTICLE; ARTICULAR CARTILAGE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; EPIPHYSIS DISEASE; GENETIC SCREENING; HUMAN; MULTIPLE EPIPHYSEAL DYSPLASIA; MUTATION RATE; POINT MUTATION; PRIORITY JOURNAL;

ADULT; BASE SEQUENCE; BONE AND BONES; CHILD; CHONDROCYTES; COLLAGEN TYPE IX; FEMALE; HUMANS; KNEE; MALE; MICROSCOPY, ELECTRON; MOLECULAR SEQUENCE DATA; MUTATION; OSTEOCHONDRODYSPLASIAS; PEDIGREE;

EID: 0036808174     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.10554     Document Type: Article

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