|
1
|
Reardon W, Winter RM, Rutland P, Pulleyn
LJ, Jones BM and Malcolm S: Mutations in the fibroblast growth
factor receptor 2 gene cause Crouzon syndrome. Nat Genet. 8:98–103.
1994. View Article : Google Scholar : PubMed/NCBI
|
|
2
|
Gorry MC, Preston RA, White GJ, Zhang Y,
Singhal VK, Losken HW, Parker MG, Nwokoro NA, Post JC and Ehrlich
GD: Crouzon syndrome: Mutations in two spliceoforms of FGFR2 and a
common point mutation shared with Jackson-Weiss syndrome. Hum Mol
Genet. 4:1387–1390. 1995. View Article : Google Scholar : PubMed/NCBI
|
|
3
|
Oldridge M, Lunt PW, Zackai EH,
McDonald-McGinn DM, Muenke M, Moloney DM, Twigg SR, Heath JK,
Howard TD, Hoganson G, et al: Genotype-phenotype correlation for
nucleotide substitutions in the IgII-IgIII linker of FGFR2. Hum Mol
Genet. 6:137–143. 1997. View Article : Google Scholar : PubMed/NCBI
|
|
4
|
Murano I: Crouzon syndrome. Nihon Rinsho.
(Suppl 3): S416–S417. 2006.In Japanese.
|
|
5
|
Steinberger D, Reinhartz T, Unsöld R and
Müller U: FGFR2 mutation in clinically nonclassifiable autosomal
dominant craniosynostosis with pronounced phenotypic variation. Am
J Med Genet. 66:81–86. 1996. View Article : Google Scholar : PubMed/NCBI
|
|
6
|
Park WJ, Meyers GA, Li X, Theda C, Day D,
Orlow SJ, Jones MC and Jabs EW: Novel FGFR2 mutations in Crouzon
and Jackson-Weiss syndromes show allelic heterogeneity and
phenotypic variability. Hum Mol Genet. 4:1229–1233. 1995.
View Article : Google Scholar : PubMed/NCBI
|
|
7
|
Meyers GA, Day D, Goldberg R, Daentl DL,
Przylepa KA, Abrams LJ, Graham JM Jr, Feingold M, Moeschler JB,
Rawnsley E, et al: 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. Am J Hum Genet. 58:491–498. 1996.PubMed/NCBI
|
|
8
|
Steinberger D, Collmann H, Schmalenberger
B and Müller U: A novel mutation (a886 g) in exon 5 of FGFR2 in
members of a family with Crouzon phenotype and plagiocephaly. J Med
Genet. 34:420–422. 1997. View Article : Google Scholar : PubMed/NCBI
|
|
9
|
Lin Y, Ai S, Chen C, Liu X, Luo L, Ye S,
Liang X, Zhu Y, Yang H and Liu Y: Ala344Pro mutation in the FGFR2
gene and related clinical findings in one Chinese family with
Crouzon syndrome. Mol Vis. 18:1278–1282. 2012.PubMed/NCBI
|
|
10
|
Lin Y, Liang X, Ai S, Chen C, Liu X, Luo
L, Ye S, Li B, Liu Y and Yang H: FGFR2 molecular analysis and
related clinical findings in one Chinese family with Crouzon
syndrome. Mol Vis. 18:449–454. 2012.PubMed/NCBI
|
|
11
|
Hollway GE, Suthers GK, Haan EA, Thompson
E, David DJ, Gecz J and Mulley JC: Mutation detection in FGFR2
craniosynostosis syndromes. Hum Genet. 99:251–255. 1997. View Article : Google Scholar : PubMed/NCBI
|
|
12
|
Kan SH, Elanko N, Johnson D,
Cornejo-Roldan L, Cook J, Reich EW, Tomkins S, Verloes A, Twigg SR,
Rannan-Eliya S, et al: Genomic screening of fibroblast
growth-factor receptor 2 reveals a wide spectrum of mutations in
patients with syndromic craniosynostosis. Am J Hum Genet.
70:472–486. 2002. View
Article : Google Scholar : PubMed/NCBI
|
|
13
|
Tartaglia M, Valeri S, Velardi F, Di Rocco
C and Battaglia PA: Trp290Cys mutation in exon IIIa of the
fibroblast growth factor receptor 2 (FGFR2) gene is associated with
Pfeiffer syndrome. Hum Genet. 99:602–606. 1997. View Article : Google Scholar : PubMed/NCBI
|
|
14
|
Ke R, Yang X, Tianyi C, Ge M, Lei J and Mu
X: The C342R mutation in FGFR2 causes Crouzon syndrome with elbow
deformity. J Craniofac Surg. 26:584–586. 2015. View Article : Google Scholar : PubMed/NCBI
|
|
15
|
Padmanabhan V, Hegde AM and Rai K:
Crouzon's syndrome: A review of literature and case report. Contemp
Clin Dent. 2:211–214. 2011. View Article : Google Scholar
|
|
16
|
Robin NH, Falk MJ and Haldeman-Englert CR:
FGFR-Related Craniosynostosis Syndromes. Pagon RA, Adam MP,
Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT,
Mefford HC, Smith RJH and Stephens K: GeneReviews®. http://www.ncbi.nlm.nih.gov/books/NBK1455/.
University of Washington; Seattle, WA: 1993
|
|
17
|
Snyder-Warwick AK, Perlyn CA, Pan J, Yu K,
Zhang L and Ornitz DM: Analysis of a gain-of-function FGFR2 Crouzon
mutation provides evidence of loss of function activity in the
etiology of cleft palate. Proc Natl Acad Sci USA. 107:2515–2520.
2010. View Article : Google Scholar : PubMed/NCBI
|
|
18
|
Piccione M, Antona V, Niceta M, Fabiano C,
Martines M, Bianchi A and Corsello G: Q289P mutation in the FGFR2
gene: First report in a patient with type 1 Pfeiffer syndrome. Eur
J Pediatr. 168:1135–1139. 2009. View Article : Google Scholar
|
|
19
|
Lapunzina P, Fernández A, Sánchez Romero
JM, Delicado A, Sáenz de Pipaon M, López Pajares I and Molano J: A
novel insertion in the FGFR2 gene in a patient with Crouzon
phenotype and sacrococcygeal tail. Birth Defects Res A Clin Mol
Teratol. 73:61–64. 2005. View Article : Google Scholar
|
|
20
|
Gong SG: The Fgfr2 W290R mouse model of
Crouzon syndrome. Childs Nerv Syst. 28:1495–1503. 2012. View Article : Google Scholar : PubMed/NCBI
|
|
21
|
Okajima K, Robinson LK, Hart MA, Abuelo
DN, Cowan LS, Hasegawa T, Maumenee IH and Jabs EW: Ocular anterior
chamber dysgenesis in craniosynostosis syndromes with a fibroblast
growth factor receptor 2 mutation. Am J Med Genet. 85:160–170.
1999. View Article : Google Scholar : PubMed/NCBI
|