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- W2024487281 abstract "Abstract Background : Crouzon syndrome is an autosomal dominant disorder causing premature fusion of the cranial suture. Mutations have been reported in exon IIIa or IIIc of the fibroblast growth factor receptor 2 ( FGFR2 ) gene. Methods : In the present study, nine unrelated Crouzon syndrome patients were screened for mutations in the two exons of FGFR2 by polymerase chain reaction and direct sequencing. Results : Mutations were detected in 67% (6/9) of all cases. More than half the studied Crouzon patients carried a mutation resulting in either the loss or gain of a cysteine residue. A novel mutation, Tyr281Cys substitution, was discovered at exon IIIa. Conclusions : The mechanisms by which the same genotypes cause different phenotypes for each type of craniosynostosis syndrome in still uncertain. However, the molecular identification of the FGFR gene has made a great impact on the clinical classification of craniosynostosis syndromes; a new classification based on genotypes seems to be unavoidable." @default.
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- W2024487281 date "2001-06-28" @default.
- W2024487281 modified "2023-10-18" @default.
- W2024487281 title "Mutation analysis of Crouzon syndrome and identification of one novel mutation in Taiwanese patients" @default.
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- W2024487281 doi "https://doi.org/10.1046/j.1442-200x.2001.01392.x" @default.
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