MED, COMP, multilayered and NEIN: An overview of multiple epiphyseal dysplasia

Pediatric Radiology

Volumn 35, Issue 2, 2005, Pages 116-123

  Lachman, Ralph S ^a,b   Krakow, Deborah ^a   Cohn, Daniel H ^a   Rimoin, David L ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b Intl Skeletal Dysplasia Registry   (United States)

Author keywords

Collagen abnormalities; COMP gene; Diastrophic dysplasia; Matrilin defect; Multiple epiphyseal dysplasia; Pseudoachondroplasia; Type IX collagen

Indexed keywords

CARTILAGE OLIGOMERIC MATRIX PROTEIN; COLLAGEN TYPE 9; GENE PRODUCT; MATRILIN 3; UNCLASSIFIED DRUG;

ADOLESCENT; BONE RADIOGRAPHY; BRACHYDACTYLY; CHILD; CLINICAL FEATURE; DIAGNOSTIC ACCURACY; EPIPHYSIS DISEASE; FAMILY COUNSELING; FOOT MALFORMATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC COUNSELING; GENETIC IDENTIFICATION; HUMAN; INHERITANCE; PATHOGENESIS; PATIENT CARE; PRIORITY JOURNAL; PROGNOSIS; REVIEW;

COLLAGEN TYPE IX; EXTRACELLULAR MATRIX PROTEINS; GLYCOPROTEINS; HUMANS; MUTATION; OSTEOCHONDRODYSPLASIAS;

EID: 12344335605     PISSN: 03010449     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00247-004-1323-4     Document Type: Review

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