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- Title
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
- 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.
- Publication
Cytogenetics and cell genetics, 2000, Vol 91, Issue 1-4, p138
- ISSN
0301-0171
- Publication type
Journal Article
- DOI
10.1159/000056834