[1]http://www.ncbi,nlm.nih.gov/books/
[2]Sawh-Martinez R, Steinbacher DM. Syndromic craniosynostosis. Clin Plast Surg, 2019, 46(2): 141-155
[3]Timberlake AT, Jin SC, Nelson-Williams C, et al. Mutations in TFAP2B and previously unimplicated genes of the BMP, Wnt, and Hedgehog pathways in syndromic craniosynostosis. Proc Natl Acad Sci U S A, 2019, 116(30): 15116-15121
[4]中华人民共和国卫生部. 《中国出生缺陷防治报告(2012)》[R/OL]. <http: //www. gov. cn/gzdt/2012-09/12/content_2223373. Html, 2012-09-12
[5]杨琳, 黎籽秀, 梅枚, 等. 全外显子组序列分析新生儿FGFR2基因相关疾病1例. 中国循证儿科杂志,, 2015, 10(1): 34-39
[6]Ke R, Yang X, Tianyi C, et al. The C342R mutation in FGFR2 causes Crouzon syndrome with elbow deformity. J Craniofac Surg, 2015, 26(2): 584-586
[7]Giancotti A, D'Ambrosio V, Marchionni E, et al. Pfeiffer syndrome: literature review of prenatal sonographic findings and genetic diagnosis. J Matern Fetal Neonatal Med, 2017, 30(18): 2225-2231
[8]Ibarra-Arce A, Ortiz de Zarate-Alarcon G, Flores-Pena LG, et al. Mutations in the FGFR2 gene in Mexican patients with Apert syndrome. Genet Mol Res, 2015, 14(1): 2341-2346
[9]Gao Y, Yan K, Yang L, et al. Biometry reference range of the corpus callosum in neonates: An observational study. Medicine (Baltimore), 2018, 97(24): e11071
[10]Slaney SF, Oldridge M, Hurst JA, et al. Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome. Am J Hum Genet, 1996, 58(5): 923-932
[11]Su N, Jin M, Chen L. Role of FGF/FGFR signaling in skeletal development and homeostasis: learning from mouse models. Bone Res, 2014, 2: 14003
[12]Suh YJ, Bae HS, Choi JY, et al. A novel FGFR2 mutation in tyrosine kinase II domain, L617F, in Crouzon syndrome. J Cell Biochem, 2014, 115(1): 102-110
[13]Tartaglia M, Di Rocco C, Lajeunie E, et al. Jackson-Weiss syndrome: identification of two novel FGFR2 missense mutations shared with Crouzon and Pfeiffer craniosynostotic disorders. Hum Genet, 1997, 101(1): 47-50
[14]Wenger TL, Dahl J, Bhoj EJ, et al. Tracheal cartilaginous sleeves in children with syndromic craniosynostosis. Genet Med, 2017, 19(1): 62-68
[15]Kunwar F, Tewari S, Bakshi SR. Apert syndrome with S252W FGFR2 mutation and characterization using Phenomizer: An Indian case report. J Oral Biol Craniofac Res, 2017, 7(1): 67-71
[16]Azoury SC, Reddy S, Shukla V, et al. Fibroblast Growth Factor Receptor 2 (FGFR2) Mutation Related Syndromic Craniosynostosis. Int J Biol Sci, 2017, 13(12): 1479-1488
[17]Badve CA, K MM, Iyer RS, et al. Craniosynostosis: imaging review and primer on computed tomography. P Pediatr Radiol, 2013, 43(6): 728-742, quiz 725-727
[18]Garel C, Cont I, Alberti C, et al. Biometry of the corpus callosum in children: MR imaging reference data. AJNR Am J Neuroradiol, 2011, 32(8): 1436-1443
[19]Pashaj S, Merz E, Wellek S. Biometry of the fetal corpus callosum by three-dimensional ultrasound. Ultrasound Obstet Gynecol, 2013, 42(6): 691-698
[20]Kehl S, Eckert S, Sutterlin M, et al. Influence of different rotation angles in assessment of lung volumes by 3-dimensional sonography in comparison to magnetic resonance imaging in healthy fetuses. J Ultrasound Med, 2011, 30(6): 819-825 |
