Citations for
1CRS7A, CRS7C, FGFR1, FGFR2
FGFR1 and FGFR2 Mutations in Pfeiffer Syndrome.
Chokdeemboon C, Mahatumarat C, Rojvachiranonda N, Tongkobpetch S, Suphapeetiporn K, Shotelersuk V.
J Craniofac Surg 24(1):150-2. doi: 10.1097/SCS.0b013e3182646454. 2013
2FGFR1, FGFR3, CRS10, CRS7A
Proline to arginine mutations in FGF receptors 1 and 3 result in Pfeiffer and Muenke craniosynostosis syndromes through enhancement of FGF binding affinity.
Ibrahimi OA, Zhang F, Eliseenkova AV, Linhardt RJ, Mohammadi M.
Hum Mol Genet 13(1):69-78. Epub 2003 Nov 12. 2004
3ACS1, 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
4CRS7A, CRS7B, FGFR1, FGFR2, FGFR3
Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes.
Bellus GA, et al.
Nat Genet 14 : 174-176. 1996
5CRS7A, CRS7B, FGFR1, FGFR2
Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome.
Schell U, et al.
Hum Mol Genet 4 : 323-328. 1995
6CRS7A, FGFR1
A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome.
Muenke M, et al.
Nat Genet 8 : 269-274. 1994
7CRS7A, CRS7B
Linkage of Pfeiffer syndrome to chromosome 8 centromere and evidence for genetic heterogeneity.
Robin NH, et al.
Hum Mol Genet 3 : 2153-2158. 1994