A new case of Pfeiffer syndrome with mutation in FGFR2.

Détails

ID Serval
serval:BIB_E4CAEA414AFB
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Institution
Titre
A new case of Pfeiffer syndrome with mutation in FGFR2.
Périodique
Genetic Counseling
Auteur(s)
Addor M.C., Gudinchet F., Laurini R.N., Pescia G., Schorderet D.F.
ISSN
1015-8146
Statut éditorial
Publié
Date de publication
1997
Peer-reviewed
Oui
Volume
8
Numéro
4
Pages
303-309
Langue
anglais
Notes
Publication types: Case Reports ; Journal Article
Résumé
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.
Mots-clé
Acrocephalosyndactylia, Craniosynostoses, Fatal Outcome, Fibroblast Growth Factor 2, Humans, Infant, Newborn, Male, Point Mutation
Pubmed
Web of science
Création de la notice
28/02/2008 11:52
Dernière modification de la notice
20/08/2019 16:08
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