Clinical spectrum of fibroblast growth factor receptor mutations

Human Mutation

Volumn 14, Issue 2, 1999, Pages 115-125

  Passos Bueno, M R ^a   Wilcox, W R ^b   Jabs, E W ^c   Sertie A L ^a   Alonso, L G ^d   Kitoh, H ^e  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c JOHNS HOPKINS HOSPITAL   (United States)

^d FEDERAL UNIVERSITY OF SÃO PAULO   (Brazil)

^e INSTITUTE FOR DEVELOPMENTAL RESEARCH   (Japan)

Author keywords

Achondroplasia; Antley Bixtley syndrome; Apert syndrome; Beare Stevenson syndrome; Craniosynostosis; Crouzon syndrome; FGFR1; FGFR2; FGFR3; Hypochondroplasia; Jackson Weiss syndrome; Pfeiffer syndrome; Platyspon dylic lethal skeletal dysplasia; Saethre Chotzen syndrome; Thanatophoric dysplasia

Indexed keywords

FIBROBLAST GROWTH FACTOR RECEPTOR;

ACHONDROPLASIA; ACROCEPHALOSYNDACTYLY; ARTICLE; BONE DYSPLASIA; CRANIOFACIAL SYNOSTOSIS; CROUZON SYNDROME; DWARFISM; GENE MUTATION; GENOTYPE; HUMAN; HYPOCHONDROPLASIA; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; THANATOPHORIC DWARFISM;

BONE DISEASES, DEVELOPMENTAL; GENOTYPE; HUMANS; MUTATION; NERVOUS SYSTEM MALFORMATIONS; PHENOTYPE; POINT MUTATION; PROTEIN-TYROSINE KINASES; RECEPTOR PROTEIN-TYROSINE KINASES; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 1; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 2; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 3; RECEPTORS, FIBROBLAST GROWTH FACTOR;

EID: 0032774475     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1999)14:2<115::AID-HUMU3>3.0.CO;2-2     Document Type: Article

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