| 1 | CRS7A, CRS7C, FGFR1, FGFR2
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| FGFR1 and FGFR2 Mutations in Pfeiffer Syndrome.
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| Chokdeemboon C, Mahatumarat C, Rojvachiranonda N, Tongkobpetch S, Suphapeetiporn K, Shotelersuk V.
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| J Craniofac Surg 24(1):150-2. doi: 10.1097/SCS.0b013e3182646454.
2013
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| 2 | FGFR1, FGFR3, CRS10, CRS7A
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| Proline to arginine mutations in FGF receptors 1 and 3 result in Pfeiffer and Muenke craniosynostosis syndromes through enhancement of FGF binding affinity.
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| Ibrahimi OA, Zhang F, Eliseenkova AV, Linhardt RJ, Mohammadi M.
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| Hum Mol Genet 13(1):69-78. Epub 2003 Nov 12. 2004
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| 3 | ACS1, CRS5A, CRS5B, CRS6, CRS7A, CRS7B
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| Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses.
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| Passos-Bueno MR, et al.
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| Am J Med Genet 78 : 237-241. 1998
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| 4 | CRS7A, CRS7B, FGFR1, FGFR2, FGFR3
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| Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes.
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| Bellus GA, et al.
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| Nat Genet 14 : 174-176. 1996
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| 5 | CRS7A, CRS7B, FGFR1, FGFR2
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| Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome.
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| Schell U, et al.
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| Hum Mol Genet 4 : 323-328. 1995
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| 6 | CRS7A, FGFR1
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| A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome.
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| Muenke M, et al.
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| Nat Genet 8 : 269-274. 1994
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| 7 | CRS7A, CRS7B
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| Linkage of Pfeiffer syndrome to chromosome 8 centromere and evidence for genetic heterogeneity.
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| Robin NH, et al.
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| Hum Mol Genet 3 : 2153-2158. 1994
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