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Clinicogenetic study of Turkish patients with syndromic craniosynostosis and literature review.

Nur BG, Pehlivanoğlu S, Mıhçı E, Calışkan M, Demir D, Alper OM, Kayserili H, Lüleci G. Nur BG, et al. Pediatr Neurol. 2014 May;50(5):482-90. doi: 10.1016/j.pediatrneurol.2014.01.023. Epub 2014 Jan 11. Pediatr Neurol. 2014. PMID: 24656465 Review.

Jackson-Weiss syndrome: identification of two novel FGFR2 missense mutations shared with Crouzon and Pfeiffer craniosynostotic disorders.

Tartaglia M, Di Rocco C, Lajeunie E, Valeri S, Velardi F, Battaglia PA. Tartaglia M, et al. Hum Genet. 1997 Nov;101(1):47-50. doi: 10.1007/s004390050584. Hum Genet. 1997. PMID: 9385368

Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses.

Passos-Bueno MR, Sertié AL, Richieri-Costa A, Alonso LG, Zatz M, Alonso N, Brunoni D, Ribeiro SF. Passos-Bueno MR, et al. Am J Med Genet. 1998 Jul 7;78(3):237-41. Am J Med Genet. 1998. PMID: 9677057

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.

Meyers GA, Day D, Goldberg R, Daentl DL, Przylepa KA, Abrams LJ, Graham JM Jr, Feingold M, Moeschler JB, Rawnsley E, Scott AF, Jabs EW. Meyers GA, et al. Am J Hum Genet. 1996 Mar;58(3):491-8. Am J Hum Genet. 1996. PMID: 8644708 Free PMC article.

Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome.

Lajeunie E, Heuertz S, El Ghouzzi V, Martinovic J, Renier D, Le Merrer M, Bonaventure J. Lajeunie E, et al. Eur J Hum Genet. 2006 Mar;14(3):289-98. doi: 10.1038/sj.ejhg.5201558. Eur J Hum Genet. 2006. PMID: 16418739 Free article.

Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis.

Kan SH, Elanko N, Johnson D, Cornejo-Roldan L, Cook J, Reich EW, Tomkins S, Verloes A, Twigg SR, Rannan-Eliya S, McDonald-McGinn DM, Zackai EH, Wall SA, Muenke M, Wilkie AO. Kan SH, et al. Am J Hum Genet. 2002 Feb;70(2):472-86. doi: 10.1086/338758. Epub 2002 Jan 4. Am J Hum Genet. 2002. PMID: 11781872 Free PMC article.

Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients.

Roscioli T, Elakis G, Cox TC, Moon DJ, Venselaar H, Turner AM, Le T, Hackett E, Haan E, Colley A, Mowat D, Worgan L, Kirk EP, Sachdev R, Thompson E, Gabbett M, McGaughran J, Gibson K, Gattas M, Freckmann ML, Dixon J, Hoefsloot L, Field M, Hackett A, Kamien B, Edwards M, Adès LC, Collins FA, Wilson MJ, Savarirayan R, Tan TY, Amor DJ, McGillivray G, White SM, Glass IA, David DJ, Anderson PJ, Gianoutsos M, Buckley MF. Roscioli T, et al. Am J Med Genet C Semin Med Genet. 2013 Nov;163C(4):259-70. doi: 10.1002/ajmg.c.31378. Epub 2013 Oct 11. Am J Med Genet C Semin Med Genet. 2013. PMID: 24127277

Phenotypic diversity in patients with craniosynostoses unrelated to Apert syndrome: the role of fibroblast growth factor receptor gene mutations.

Ito S, Sekido K, Kanno H, Sato H, Tanaka M, Yamaguchi K, Yamamoto I. Ito S, et al. J Neurosurg. 2005 Jan;102(1 Suppl):23-30. doi: 10.3171/ped.2005.102.1.0023. J Neurosurg. 2005. PMID: 16206730

Q289P mutation in the FGFR2 gene: first report in a patient with type 1 Pfeiffer syndrome.

Piccione M, Antona V, Niceta M, Fabiano C, Martines M, Bianchi A, Corsello G. Piccione M, et al. Eur J Pediatr. 2009 Sep;168(9):1135-9. doi: 10.1007/s00431-008-0884-x. Epub 2008 Dec 6. Eur J Pediatr. 2009. PMID: 19066959

Fibroblast Growth Factor Receptor 2 (FGFR2) Mutation Related Syndromic Craniosynostosis.

Azoury SC, Reddy S, Shukla V, Deng CX. Azoury SC, et al. Int J Biol Sci. 2017 Nov 2;13(12):1479-1488. doi: 10.7150/ijbs.22373. eCollection 2017. Int J Biol Sci. 2017. PMID: 29230096 Free PMC article. Review.

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