|
|||||
|
|
Variable expressivity of pfeiffer syndrome in a family with FGFR1 p.Pro252Arg mutation |
|
| Authors: | Beáta Bessenyei Mariann Tihanyi Marianna Hartwig Katalin Szakszon Éva Oláh |
| Affiliation: | 1. Department of Laboratory Medicine, Faculty of Medicine, University of Debrecen, Debrecen, Hungary;2. Genetic Laboratory, Hospital of Zala County, Zalaegerszeg, Hungary;3. Department of Pediatrics, Faculty of Medicine, University of Debrecen, Debrecen, Hungary |
| Abstract: | |
| Keywords: | Pfeiffer syndrome craniosynostosis FGFR1 syndactyly clinodactyly |