Common mutations in the fibroblast growth factor receptor 3 (FGFR 3) gene account for achondroplasia, hypochondroplasia and thanatophoric dwarfism

Clinical Pediatric Endocrinology

Volumn 6, Issue SUPPL. 10, 1997, Pages 105-113

  Bonaventure, J ^a   Rousseau, F ^a   Legeai Mallet, L ^a   Le Merrer, M ^a   Munnich, A ^a   Maroteaux, P ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

Achondroplasia; FGFR 3; Hypochondroplasia; Thanatophoric dysplasia; Tyrosine kinase

Indexed keywords

FIBROBLAST GROWTH FACTOR 3; FIBROBLAST GROWTH FACTOR RECEPTOR; PROTEIN TYROSINE KINASE;

ACHONDROPLASIA; CHROMOSOME 4; CONFERENCE PAPER; FETUS; GENE MUTATION; HUMAN; HUMAN TISSUE; HYPOCHONDROPLASIA; MISSENSE MUTATION; THANATOPHORIC DWARFISM;

EID: 0031393788     PISSN: 09185739     EISSN: None     Source Type: Journal    
DOI: 10.1297/cpe.6.supple10_105     Document Type: Conference Paper

References (31)