|
|||||
|
|
Severe craniosynostosis with Noonan syndrome phenotype associated with SHOC2 mutation: Clinical evidence of crosslink between FGFR and RAS signaling pathways |
|
| Authors: | Toshiki Takenouchi Yoshiaki Sakamoto Tomoru Miwa Chiharu Torii Rika Kosaki Kazuo Kishi Takao Takahashi Kenjiro Kosaki |
| Affiliation: | 1. Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan;2. Department of Plastic and Reconstructive Surgery, Keio University School of Medicine, Tokyo, Japan;3. Department of Neurosurgery, Keio University School of Medicine, Tokyo, Japan;4. Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan;5. Division of Medical Genetics, National Center for Child Health and Development, Tokyo, Japan |
| Abstract: | |
| Keywords: | craniosynostosis RAS FGFR SHOC2 |