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A new case of Pfeiffer syndrome with mutation in FGFR2

Addor, M C; Gudinchet, F; Laurini, Ricardo LU ; Pescia, G and Schorderet, D F (1997) In Genetic Counseling 8(4). p.303-309
Abstract
We report on a sporadic case of Pfeiffer syndrome in a male newborn with complex craniosynostosis, broad thumbs and great toes and early demise. SSCP and direct sequencing revealed a missense mutation at position 1037 of the exon B (or IIIc) of the FGFR2 gene (codon 342) resulting in a cysteine to serine modification (TGC-TCC). Genotype-phenotype correlations between the FGFRs mutations and the different craniosynostotic syndromes are discussed.
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author
publishing date
type
Contribution to journal
publication status
published
subject
in
Genetic Counseling
volume
8
issue
4
pages
303 - 309
publisher
Editions Médecine et hygiène
external identifiers
  • pmid:9457499
  • scopus:0031440036
ISSN
1015-8146
language
English
LU publication?
no
id
7ede6120-905f-437f-afc8-8812bca5c904 (old id 1112552)
date added to LUP
2008-07-17 08:38:52
date last changed
2017-01-01 06:59:50
@article{7ede6120-905f-437f-afc8-8812bca5c904,
  abstract     = {We report on a sporadic case of Pfeiffer syndrome in a male newborn with complex craniosynostosis, broad thumbs and great toes and early demise. SSCP and direct sequencing revealed a missense mutation at position 1037 of the exon B (or IIIc) of the FGFR2 gene (codon 342) resulting in a cysteine to serine modification (TGC-TCC). Genotype-phenotype correlations between the FGFRs mutations and the different craniosynostotic syndromes are discussed.},
  author       = {Addor, M C and Gudinchet, F and Laurini, Ricardo and Pescia, G and Schorderet, D F},
  issn         = {1015-8146},
  language     = {eng},
  number       = {4},
  pages        = {303--309},
  publisher    = {Editions Médecine et hygiène},
  series       = {Genetic Counseling},
  title        = {A new case of Pfeiffer syndrome with mutation in FGFR2},
  volume       = {8},
  year         = {1997},
}