An unusual FGFR1 mutation (fibroblast growth factor receptor 1 mutation) in a girl with non-syndromic trigonocephalyKress 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)
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.
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: email@example.com
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
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