| 1 | FGFR3, CRS10
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| Muenke syndrome (FGFR3-related craniosynostosis): expansion of the phenotype and review of the literature.
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| Doherty ES, Lacbawan F, Hadley DW, Brewer C, Zalewski C, Kim HJ, Solomon B, Rosenbaum K, Domingo DL, Hart TC, Brooks BP, Immken L, Lowry RB, Kimonis V, Shanske AL, Jehee FS, Bueno MR, Knightly C, McDonald-McGinn D, Zackai EH, Muenke M.
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| Am J Med Genet A 143(24):3204-15. 2007
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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 | FGFR3, CRS10
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| Paternal origin of FGFR3 mutations in Muenke-type craniosynostosis.
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| Rannan-Eliya SV, Taylor IB, De Heer IM, Van Den Ouweland AM, Wall SA, Wilkie AO.
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| Hum Genet 115(3):200-7. Epub 2004 Jul 07. 2004
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| 4 | CRS10, FGFR3
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| Sex related expressivity of the phenotype in coronal craniosynostosis caused by the recurrent P250R FGFR3 mutation.
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| Lajeunie E, et al.
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| J Med Genet 36 : 9-13. 1999
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| 5 | 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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| 6 | CRS10, CRSCNS, FGFR3
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| Syndrome of coronal craniosynostosis with brachydactyly and carpal/tarsal coalition due to Pro250Arg mutation in FGFR3 gene.
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| Graham JM, et al.
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| Am J Med Genet 77 : 322-329. 1998
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| 7 | CRS10
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| Identification of a genetic cause for isolated unilateral coronal synostosis : a unique mutation in the fibroblast growth factor receptor 3.
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| Gripp KW, et al.
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| J Pediatr 132 : 714-716. 1998
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| 8 | ACS3, CRS10, FGFR3, TWIST1
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| Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations.
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| Paznekas WA, et al.
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| Am J Hum Genet 62 : 1370-1380. 1998
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| 9 | CRS10, CRSCNS, FGFR3
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| A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome.
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| Muenke M, et al.
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| Am J Hum Genet 60 : 555-564. 1997
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| 10 | CRSCNS, FGFR3, CRS10
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| Craniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis.
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| Reardon W, Wilkes D, Rutland P, Pulleyn LJ, Malcolm S, Dean JC, Evans RD, Jones BM, Hayward R, Hall CM, Nevin NC, Baraister M, Winter RM.
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| J Med Genet 34(8):632-6. 1997
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| 11 | CRSCNS, FGFR3, CRS10
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| Phenotypic expression of the fibroblast growth factor receptor 3 (FGFR3) mutation P250R in a large craniosynostosis family.
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| Golla A, Lichmer P, von Gernet S, Winterpacht A, Fairley J, Murken J, Schuffenhauer S.
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| J Med Genet 34(8):683-4. 1997
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