1 | ACS1, ACS3, CRS10, CRS11, DEL7P21, CRS5A, CRS5B, CRS6, CRS7B, CRS8, BSCGS1, CRSCNS, FGFR1, FGFR2, FGFR3, MSX2, SADDAN, TWIST1 |
Craniosynostosis Syndromes: From Genes to Premature Fusion of Skull Bones. | |
Hehr U, et al. | |
Mol Genet Metab 68(2):139-151. No abstract available 1999 | |
2 | ACS1, CRS5A, CRS5B, CRS6, CRS7A, CRS7B |
Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses. | |
Passos-Bueno MR, et al. | |
Am J Med Genet 78 : 237-241. 1998 | |
3 | CRS5B, FGFR3 |
A recurrent mutation, ala391glu, in the transmembrane region of FGFR3 causes Crouzon syndrome and acanthosis nigricans. | |
Wilkes D, et al. | |
J Med Genet 33 : 744-748. 1996 | |
4 | CRS5B, FGFR3 |
Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans. | |
Meyers GA, et al. | |
Nat Genet 11 : 462-464. 1995 | |