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

Authors
Kress, W Petersen, B Collmann, H Grimm, T
Citation
W. Kress et al., An unusual FGFR1 mutation (fibroblast growth factor receptor 1 mutation) in a girl with non-syndromic trigonocephaly, CYTOG C GEN, 91(1-4), 2000, pp. 138-140
Citations number
12
Categorie Soggetti
Molecular Biology & Genetics
Journal title
CYTOGENETICS AND CELL GENETICS
ISSN journal
03010171 → ACNP
Volume
91
Issue
1-4
Year of publication
2000
Pages
138 - 140
Database
ISI
SICI code
0301-0171(2000)91:1-4<138:AUFM(G>2.0.ZU;2-B
Abstract
Non-syndromic trigonocephaly is a heterogeneous entity; in most cases the o rigin is unknown. Rare cases with autosomal dominant and recessive inherita nce exist. Here the mutational screening often patients in the FGFR1, 2, an d 3 genes and the TWIST gene causative of autosomal dominant craniosynostos is syndromes was reported. In one girl an unusual FGFR1 mutation was found. Copyright (C) 2001 S. Karger AG, Basel.