A disorder resembling pseudoachondroplasia but without COMP mutation

American Journal of Medical Genetics

Volumn 132 A, Issue 1, 2005, Pages 20-24

  Spranger, J W ^a,b   Zabel, B ^a   Kennedy, J ^c   Jackson, G ^c   Briggs, M ^c  

^a JOHANNES GUTENBERG UNIVERSITY   (Germany)

^b GREENWOOD GENETIC CENTER   (United States)

^c UNIVERSITY OF MANCHESTER   (United Kingdom)

Author keywords

Bone dysplasia; Cartilage oligomeric protein; COMP; Pseudoachondroplasia

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; BODY HEIGHT; BODY WEIGHT; BONE DYSPLASIA; CASE REPORT; CLINICAL FEATURE; COMP GENE; EXON; FEMALE; FOLLOW UP; GENE; GENE MUTATION; GENE SEQUENCE; HUMAN; MALE; PRIORITY JOURNAL; PSEUDOACHONDROPLASIA; SHORT LIMBED DWARFISM; SIBLING;

ACHONDROPLASIA; ADULT; DIAGNOSIS, DIFFERENTIAL; DNA; DNA MUTATIONAL ANALYSIS; EXTRACELLULAR MATRIX PROTEINS; FEMALE; GLYCOPROTEINS; HUMANS; MALE; MUTATION; OSTEOCHONDRODYSPLASIAS; SIBLINGS;

EID: 11244348978     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30350     Document Type: Article

References (14)

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