| 1 | FGFR2, CRS5A, CRS6, CRS7B
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| Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome.
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| Lajeunie E, Heuertz S, El Ghouzzi V, Martinovic J, Renier D, Le Merrer M, Bonaventure J.
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| Eur J Hum Genet 14(3):289-98. 2006
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| 2 | CRS7B, FGFR2
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| Vertebral anomalies and cartilaginous tracheal sleeve in three patients with Pfeiffer syndrome carrying the S351C FGFR2 mutation.
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| Gonzales M, Heuertz S, Martinovic J, Delahaye S, Bazin A, Loget P, Pasquier L, Le Merrer M, Bonaventure J.
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| Clin Genet 68(2):179-81. No abstract available. 2005
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| 3 | ACS1, CRS7B, CRS5A, FGFR2
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| Biochemical analysis of pathogenic ligand-dependent FGFR2 mutations suggests distinct pathophysiological mechanisms for craniofacial and limb abnormalities.
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| Ibrahimi OA, Zhang F, Eliseenkova AV, Itoh N, Linhardt RJ, Mohammadi M.
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| Hum Mol Genet 13(19):2313-24. Epub 2004 Jul 28. 2004
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| 4 | FGFR2, CRS7B
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| Novel mutation in the tyrosine kinase domain of FGFR2 in a patient with Pfeiffer syndrome.
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| Zankl A, Jaeger G, Bonafe L, Boltshauser E, Superti-Furga A.
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| Am J Med Genet 131A(3):299-300. 2004
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| 5 | CRS7B, FGFR2
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| Severe and mild phenotypes in Pfeiffer syndrome with splice acceptor mutations in exon IIIc of FGFR2.
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| Teebi AS, Kennedy S, Chun K, Ray PN.
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| Am J Med Genet 107(1):43-7. 2002
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| 6 | CRS5A, CRS7B, FGFR2
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| Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome.
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| Glaser RL, Jiang W, Boyadjiev SA, Tran AK, Zachary AA, Van Maldergem L, Johnson D, Walsh S, Oldridge M, Wall SA, Wilkie AO, Jabs EW.
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| Am J Hum Genet 66(3):768-77. 2000
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| 7 | FGFR2, CRS7B, CRS5A
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| Clustering of FGFR2 gene mutations inpatients with Pfeiffer and Crouzon syndromes (FGFR2-associated craniosynostoses).
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| Kress W, Collmann H, Busse M, Halliger-Keller B, Mueller CR.
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| Cytogenet Cell Genet 91(1-4):134-7. 2000
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| 8 | FGFR2, CRS7B
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| Analysis of the mutational spectrum of the FGFR2 gene in Pfeiffer syndrome.
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| Cornejo-Roldan LR, et al.
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| Hum Genet 104(5):425-31. 1999
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| 9 | ACS1, ACS3, CRS10, CRS11, DEL7P21, CRS5A, CRS5B, CRS6, CRS7B, CRS8, BSCGS1, CRSCNS, FGFR1, FGFR2, FGFR3, MSX2, SADDAN, TWIST1
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| Craniosynostosis Syndromes: From Genes to Premature Fusion of Skull Bones.
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| Hehr U, et al.
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| Mol Genet Metab 68(2):139-151. No abstract available 1999
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| 10 | CRS7B, FGFR2
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| Pfeiffer syndrome caused by haploinsufficient mutation of FGFR2.
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| Tsukuno M, Suzuki H, Eto Y.
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| J Craniofac Genet Dev Biol 19(4):183-8. 1999
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| 11 | 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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| 12 | CRS5A, CRS6, CRS7B, BSCGS1, FGFR2
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| Mutation detection in FGFR2 craniosynostosis syndromes.
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| Hollway GE, et al.
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| Hum Genet 99 : 251-255. 1997
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| 13 | CRS7B, FGFR2
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| Trp290Cys mutation in exon IIIa of the fibroblast growth factor receptor 2 (FGFR2) gene is associated with Pfeiffer syndrome.
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| Tartaglia M, Valeri S, Velardi F, Di Rocco C, Battaglia PA.
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| Hum Genet 99(5):602-6. 1997
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| 14 | CRS5A, CRS6, CRS7B, FGFR2
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| FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes : evidence for missense changes, insertions, and a deletion due to alternative RNA splicing.
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| Meyers GA, et al.
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| Am J Hum Genet 58 : 491-498. 1996
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| 15 | 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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| 16 | CRS5A, CRS6, CRS7B, BSCGS1, FGFR2
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| FGFR2 mutation in clinically nonclassifiable autosomal dominant craniosynostosis with pronounced phenotypic variation.
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| Steinberger D, Reinhartz T, Unsold R, Muller U.
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| Am J Med Genet 66 : 81-86. 1996
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| 17 | CRS7B, FGFR2
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| FGFR2 mutations in Pfeiffer syndrome.
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| Lajeunie E, et al.
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| Nat Genet 9 : 108. 1995
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| 18 | FGFR2, CRS5A, CRS7B
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| Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes.
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| Rutland P, et al.
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| Nat Genet 9 : 173-176. 1995
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| 19 | 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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| 20 | 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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