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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.    


  

Author Contacts

Request reprints from Dr. Wolfram Kress, Department of Human Genetics, Biozentrum, Am Hubland, D–97074 Würzburg (Germany); telephone: +49-931-888-4064; fax: +49-931-888-4069; e-mail: wkress@biozentrum.uni-wuerzburg.de

  

Article Information

Dedicated to Professor Dr. Ulrich Wolf on the occasion of his retirement.

Received: Received 15 September 2000;
manuscript accepted 29 September 2000.
Number of Print Pages : 3
Number of Figures : 2, Number of Tables : 0, Number of References : 12

  

Publication Details

Cytogenetics and Cell Genetics
Founded 1962 as Cytogenetics by H.P. Klinger

Vol. 91, No. 1-4, Year 2000 (Cover Date: 2000)

Journal Editor: H.P. Klinger, Bronx, N.Y.; M. Schmid, Würzburg
ISSN: 0301–0171 (print), 1422–9816 (Online)

For additional information: http://www.karger.com/journals/ccg


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.
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