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Vol. 91, No. 1-4, 2000
Issue release date: 2000
Section title: Paper
Cytogenet Cell Genet 91:138–140 (2000)
(DOI:10.1159/000056834)

An unusual FGFR1 mutation (fibroblast growth factor receptor 1 mutation) in a girl with non-syndromic trigonocephaly

Kress W. · Petersen B. · Collmann H. · Grimm T.
aDepartment of Human Genetics, University of Würzburg; bChildren’s Hospital, University of Würzburg; cDepartment of Paediatric Neurosurgery, University of Würzburg, Würzburg (Germany)

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Article / Publication Details

First-Page Preview
Abstract of Paper

Published online: 1/30/2001

Number of Print Pages: 3
Number of Figures: 2
Number of Tables: 0

ISSN: 1424-8581 (Print)
eISSN: 1424-859X (Online)

For additional information: http://www.karger.com/CGR

Abstract

Non-syndromic trigonocephaly is a heterogeneous entity; in most cases the origin is unknown. Rare cases with autosomal dominant and recessive inheritance exist. Here the mutational screening of ten patients in the FGFR1, 2, and 3 genes and the TWIST gene causative of autosomal dominant craniosynostosis syndromes was reported. In one girl an unusual FGFR1 mutation was found.    


Article / Publication Details

First-Page Preview
Abstract of Paper

Published online: 1/30/2001

Number of Print Pages: 3
Number of Figures: 2
Number of Tables: 0

ISSN: 1424-8581 (Print)
eISSN: 1424-859X (Online)

For additional information: http://www.karger.com/CGR


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Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in goverment regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug.
Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.

References

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    External Resources

  12. Zhang Y, Gorry MC, Post JC, Ehrlich GD: Genomic organization of the human fibroblast growth factor receptor 2 (FGFR2) gene and comparative analysis of the human FGFR gene family. Gene 230:69–79 (1999).

    External Resources