Skip to main content

Lund University Publications

LUND UNIVERSITY LIBRARIES

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.
Please use this url to cite or link to this publication:
author
; ; ; and
publishing date
type
Contribution to journal
publication status
published
subject
in
Genetic Counseling
volume
8
issue
4
pages
303 - 309
publisher
Editions Medecine et Hygiene
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
2016-04-01 16:14:44
date last changed
2025-10-14 09:17:21
@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 Medecine et Hygiene}},
  series       = {{Genetic Counseling}},
  title        = {{A new case of Pfeiffer syndrome with mutation in FGFR2}},
  volume       = {{8}},
  year         = {{1997}},
}