Trp290Cys mutation of the FGFR2 gene in a patient with severe Pfeiffer syndrome type 2

Pediatrics International

Volumn 43, Issue 3, 2001, Pages 293-295

  Ariga, Hiromichi ^a   Endo, Yuichi ^a   Ujiie, Niro ^a   Ishii, Tsutomu ^a   Ishibashi, Naohisa ^a   Fujita, Teizo ^a   Suzuki, Hitoshi ^a  

^a FUKUSHIMA MEDICAL UNIVERSITY   (Japan)

Author keywords

Craniosynostosis; Fibroblast growth factor receptor; Genotype phenotype correlation; Missense mutation; Pfeiffer syndrome

Indexed keywords

FIBROBLAST GROWTH FACTOR 2; FIBROBLAST GROWTH FACTOR RECEPTOR;

ACROCEPHALOSYNDACTYLY; ARTICLE; CASE REPORT; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; CRANIOFACIAL SYNOSTOSIS; DISEASE SEVERITY; GENE MUTATION; GENOTYPE; HUMAN; MALE; MISSENSE MUTATION; NEWBORN; PATHOGENESIS; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RADIOGRAPHY;

ACROCEPHALOSYNDACTYLIA; ASIAN CONTINENTAL ANCESTRY GROUP; HUMANS; INFANT, NEWBORN; MALE; MUTATION; RECEPTOR PROTEIN-TYROSINE KINASES; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 2; RECEPTORS, FIBROBLAST GROWTH FACTOR;

EID: 0034938343     PISSN: 13288067     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1442-200X.2001.01379.x     Document Type: Article

References (11)

1. Trp290Cys mutation in exon IIIa of the fibroblast growth factor receptor 2 (FGFR2) gene is associated with Pfeiffer syndrome
2. Novel mutation in the FGFR2 gene at the same codon as the Crouzon syndrome mutations in a Pfeiffer syndrome type 2 case
3. Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagnosis
4. Novel FGFR2 mutations in Crouzon and Jackson Weiss syndromes show allelic heterogeneity and phenotypic variability
5. Mutation in the fibroblast growth factor receptor 2 gene causes Crouzon syndrome
6. Determination of ligand-binding specificity by alternative splicing: Two distinct growth factor receptors encoded by a single gene
7. A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome
8. Molecular genetic advances in understanding craniosynostosis
9. The mutation FGFR2-associated craniosynostoses are clustered in five structual elements of immunoglobulin-like domain III of the receptor
10. Fibroblast growth factor receptors: Lessons from the genes
11. Activating mutations in the extracellular domain of the fibroblast growth factor receptor 2 function by disruption of the disulfide bond in the third immunoglobulin-like domain