Achondroplasia: From genotype to phenotype

Joint Bone Spine

Volumn 75, Issue 2, 2008, Pages 125-130

  Richette, Pascal ^a   Bardin, Thomas ^a   Stheneur, Chantal ^b  

^a UNIVERSITÉ PARIS DESCARTES   (France)

^b HÔPITAL AMBROISE PARÉ   (France)

Author keywords

Achondroplasia; Dwarfism; Endochondral ossification; Fibroblast growth factor receptor 3

Indexed keywords

FIBROBLAST GROWTH FACTOR RECEPTOR 3; GROWTH HORMONE; IMATINIB; NATRIURETIC PEPTIDE TYPE C; TYROSINE KINASE RECEPTOR;

ACHONDROPLASIA; BONE RADIOGRAPHY; CARTILAGE CELL; CELL DIFFERENTIATION; CELL PROLIFERATION; CLINICAL FEATURE; ENCHONDRAL OSSIFICATION; FRONTAL BOSSING; GENE MUTATION; GENETIC COUNSELING; GENOTYPE; GROWTH PLATE; HEREDITY; JOINT LAXITY; KNOCKOUT MOUSE; KYPHOSIS; MACROCEPHALY; MIDFACE HYPOPLASIA; NERVE ROOT COMPRESSION; NONHUMAN; PHENOTYPE; PRENATAL DIAGNOSIS; RADIODIAGNOSIS; SHORT STATURE; SHORT SURVEY; SPINAL CORD COMPRESSION; SPINE MALFORMATION; VERTEBRAL CANAL STENOSIS;

ACHONDROPLASIA; ANIMALS; CHONDROCYTES; DISEASE MODELS, ANIMAL; GENOTYPE; HUMANS; MICE; MICE, KNOCKOUT; MUTATION; OSTEOGENESIS; PHENOTYPE; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 3;

EID: 41149101805     PISSN: 1297319X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jbspin.2007.06.007     Document Type: Short Survey

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