Molecular defects in the chondrodysplasias

American Journal of Medical Genetics

Volumn 63, Issue 1, 1996, Pages 106-110

  Rimoin, David L ^a,b  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b CEDARS SINAI MEDICAL CENTER   (United States)

Author keywords

achondrogenesis; achondroplasia; atelosteogenesis; campomelic dysplasia; cartilage oligomeric matrix protein; chondrodysplasia punctata; collagen; diastrophic dysplasia; fibroblast growth factor receptor; multiple epiphyseal dysplasia; pseudoachondroplasia; skeletal dysplasias; spondyloepiphyseal dysplasia; thanatophoric dysplasia

Indexed keywords

FIBROBLAST GROWTH FACTOR; STRUCTURAL PROTEIN;

ACHONDROPLASIA; CHONDRODYSPLASIA; COLLAGEN DISEASE; DISEASE CLASSIFICATION; GENE MAPPING; GENETIC ANALYSIS; GENETIC LINKAGE; HUMAN; PRIORITY JOURNAL; PROTEIN ANALYSIS; REVIEW; THANATOPHORIC DWARFISM;

ADENOSINE DEAMINASE; ARYLSULFATASES; CARTILAGE; CHROMOSOME MAPPING; CLONING, MOLECULAR; COLLAGEN; FEMALE; HUMANS; LYSOSOMES; MALE; METABOLISM, INBORN ERRORS; OSTEOCHONDRODYSPLASIAS; PARATHYROID HORMONE-RELATED PROTEIN; PEROXISOMAL DISORDERS; PROTEIN-TYROSINE KINASES; PROTEINS; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 3; RECEPTORS, FIBROBLAST GROWTH FACTOR; SEVERE COMBINED IMMUNODEFICIENCY;

EID: 0029932410     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19960503)63:1<106::AID-AJMG20>3.0.CO;2-R     Document Type: Review

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