| 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 | 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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| 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 | 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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| 5 | CRS6, FGFR2
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| Jackson-Weiss syndrome : identification of two novel FGFR2 missense mutations shared with Crouzon and Pfeiffer craniosynostotic disorders.
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| Tartaglia M, Di Rocco C, Lajeunie E, Valeri S, Velardi F, Battaglia PA.
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| Hum Genet 101(1):47-50. 1997
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| 6 | 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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| 7 | CRS6, FGFR2
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| Spectrum of craniosynostosis phenotypes associated with novel mutations at the fibroblast growth factor receptor 2 locus.
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| Pulleyn LJ, et al.
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| Eur J Hum Genet 4 : 283-291. 1996
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| 8 | 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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| 9 | FGFR2, CRS5A, CRS6
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| Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability.
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| Park WJ, et al.
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| Hum Mol Genet 4 : 1229-1233. 1995
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| 10 | FGFR2, CRS5A, CRS6
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| Crouzon syndrome : mutations in two spliceoforms of FGFR2 and a common point mutation shared with Jackson-Weiss syndrome.
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| Gorry MC, et al.
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| Hum Mol Genet 4 : 1387-1390. 1995
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| 11 | FGFR2, CRS5A, CRS6
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| Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2.
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| Jabs EW, et al.
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| Nat Genet 8 : 275-279. 1994
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