A new case of Pfeiffer syndrome with mutation in FGFR2.

Details

Serval ID
serval:BIB_E4CAEA414AFB
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Institution
Title
A new case of Pfeiffer syndrome with mutation in FGFR2.
Journal
Genetic Counseling
Author(s)
Addor M.C., Gudinchet F., Laurini R.N., Pescia G., Schorderet D.F.
ISSN
1015-8146
Publication state
Published
Issued date
1997
Peer-reviewed
Oui
Volume
8
Number
4
Pages
303-309
Language
english
Notes
Publication types: Case Reports ; Journal Article
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.
Keywords
Acrocephalosyndactylia, Craniosynostoses, Fatal Outcome, Fibroblast Growth Factor 2, Humans, Infant, Newborn, Male, Point Mutation
Pubmed
Web of science
Create date
28/02/2008 11:52
Last modification date
20/08/2019 16:08
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