Mutation analysis of Crouzon syndrome and identification of one novel mutation in Taiwanese patients

Pediatrics International

Volumn 43, Issue 3, 2001, Pages 263-266

  Tsai, Fuu Jen ^a   Yang, Chi Fan ^a   Wu, Jer Yuarn ^a   Tsai, Chang Hai ^a   Lee, Cheng Chun ^a  

^a CHINA MEDICAL UNIVERSITY HOSPITAL   (Taiwan)

Author keywords

Crouzon syndrome; FGFR2 gene; Mutation

Indexed keywords

FIBROBLAST GROWTH FACTOR 2;

ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; CROUZON SYNDROME; EXON; GENE MUTATION; GENETIC ANALYSIS; GENETIC SCREENING; GENOTYPE; HUMAN; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; TAIWAN;

ASIAN CONTINENTAL ANCESTRY GROUP; CRANIOFACIAL DYSOSTOSIS; HUMANS; MUTATION; RECEPTOR PROTEIN-TYROSINE KINASES; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 2; RECEPTORS, FIBROBLAST GROWTH FACTOR; TAIWAN;

EID: 0034945297     PISSN: 13288067     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1442-200X.2001.01392.x     Document Type: Article

References (13)

1. Birth prevalence studies of the Crouzon syndrome: Comparison of direct and indirect methods
2. Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome
3. Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes
4. Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability
5. Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome
6. Craniosynostosis syndromes: From genes to premature fusion of skull bones
7. Crouzon syndrome: Mutations in two spliceoforms of FGFR2 and a common point mutation shared with Jackson-Weiss syndrome
8. FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: Evidence for missense changes, insertions, and a deletion due to alternative RNA splicing
9. Novel mutation in the FGFR2 gene at the same codon as the Crouzon syndrome mutations in a severe Pfeiffer syndrome type 2 case
10. Craniosynostosis, mid-facial hypoplasia, and foot abnormalities: An autosomal dominant phenotype in a large Amish kindred
11. Craniosynostosis: Phenotypic/molecular correlations